Novel destabilizing Dynactin variant (

Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-...
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Autor*in:	Čierny, Marek [verfasserIn] Hooshmand, Sam I [verfasserIn] Fee, Dominic [verfasserIn] Tripathi, Swarnendu [verfasserIn] Dsouza, Nikita R. [verfasserIn] La Pean Kirschner, Alison [verfasserIn] Zimmermann, Michael T. [verfasserIn] Brennan, Ryan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1

Übergeordnetes Werk:	Enthalten in: Parkinsonism & related disorders - Amsterdam [u.a.] : Elsevier Science, 1995, 77, Seite 110-113
Übergeordnetes Werk:	volume:77 ; pages:110-113

DOI / URN:	10.1016/j.parkreldis.2020.06.006

Katalog-ID:	ELV004768906

Internformat


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100	1		\|a Čierny, Marek \|e verfasserin \|4 aut
245	1	0	\|a Novel destabilizing Dynactin variant (
264		1	\|c 2020
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337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants.
650		4	\|a Atypical parkinsonism
650		4	\|a DCTN1
650		4	\|a Dynactin
650		4	\|a Genetics
650		4	\|a Perry disease
650		4	\|a Perry syndrome
650		4	\|a Microtubules
650		4	\|a Type 2 respiratory failure
650		4	\|a Autophagy
650		4	\|a Nocturnal hypopnea
650		4	\|a p150(Glued)
650		4	\|a Protein stability
650		4	\|a Predicted folding free energy
650		4	\|a Protein modeling
650		4	\|a Microtubule associated protein RP/EB family member 1
650		4	\|a EB1
700	1		\|a Hooshmand, Sam I \|e verfasserin \|4 aut
700	1		\|a Fee, Dominic \|e verfasserin \|4 aut
700	1		\|a Tripathi, Swarnendu \|e verfasserin \|4 aut
700	1		\|a Dsouza, Nikita R. \|e verfasserin \|4 aut
700	1		\|a La Pean Kirschner, Alison \|e verfasserin \|4 aut
700	1		\|a Zimmermann, Michael T. \|e verfasserin \|4 aut
700	1		\|a Brennan, Ryan \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Parkinsonism & related disorders \|d Amsterdam [u.a.] : Elsevier Science, 1995 \|g 77, Seite 110-113 \|h Online-Ressource \|w (DE-627)32448898X \|w (DE-600)2027635-7 \|w (DE-576)272349704 \|x 1873-5126 \|7 nnns
773	1	8	\|g volume:77 \|g pages:110-113
912			\|a GBV_USEFLAG_U
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912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_32
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_70
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_90
912			\|a GBV_ILN_95
912			\|a GBV_ILN_100
912			\|a GBV_ILN_101
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_224
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_702
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2006
912			\|a GBV_ILN_2008
912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2118
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
912			\|a GBV_ILN_2147
912			\|a GBV_ILN_2148
912			\|a GBV_ILN_2152
912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2470
912			\|a GBV_ILN_2507
912			\|a GBV_ILN_2522
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4046
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4251
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4335
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4393
936	b	k	\|a 44.90 \|j Neurologie
951			\|a AR
952			\|d 77 \|h 110-113

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author_variant	m č mč s i h si sih d f df s t st n r d nr nrd p k a l pka pkal m t z mt mtz r b rb
matchkey_str	article:18735126:2020----::oedsaiiigyat
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publishDate	2020
allfields	10.1016/j.parkreldis.2020.06.006 doi (DE-627)ELV004768906 (ELSEVIER)S1353-8020(20)30171-1 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Čierny, Marek verfasserin aut Novel destabilizing Dynactin variant ( 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants. Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1 Hooshmand, Sam I verfasserin aut Fee, Dominic verfasserin aut Tripathi, Swarnendu verfasserin aut Dsouza, Nikita R. verfasserin aut La Pean Kirschner, Alison verfasserin aut Zimmermann, Michael T. verfasserin aut Brennan, Ryan verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 77, Seite 110-113 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:77 pages:110-113 GBV_USEFLAG_U SYSFLAG_U GBV_ELV GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 77 110-113
spelling	10.1016/j.parkreldis.2020.06.006 doi (DE-627)ELV004768906 (ELSEVIER)S1353-8020(20)30171-1 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Čierny, Marek verfasserin aut Novel destabilizing Dynactin variant ( 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants. Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1 Hooshmand, Sam I verfasserin aut Fee, Dominic verfasserin aut Tripathi, Swarnendu verfasserin aut Dsouza, Nikita R. verfasserin aut La Pean Kirschner, Alison verfasserin aut Zimmermann, Michael T. verfasserin aut Brennan, Ryan verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 77, Seite 110-113 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:77 pages:110-113 GBV_USEFLAG_U SYSFLAG_U GBV_ELV GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 77 110-113
allfields_unstemmed	10.1016/j.parkreldis.2020.06.006 doi (DE-627)ELV004768906 (ELSEVIER)S1353-8020(20)30171-1 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Čierny, Marek verfasserin aut Novel destabilizing Dynactin variant ( 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants. Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1 Hooshmand, Sam I verfasserin aut Fee, Dominic verfasserin aut Tripathi, Swarnendu verfasserin aut Dsouza, Nikita R. verfasserin aut La Pean Kirschner, Alison verfasserin aut Zimmermann, Michael T. verfasserin aut Brennan, Ryan verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 77, Seite 110-113 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:77 pages:110-113 GBV_USEFLAG_U SYSFLAG_U GBV_ELV GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 77 110-113
allfieldsGer	10.1016/j.parkreldis.2020.06.006 doi (DE-627)ELV004768906 (ELSEVIER)S1353-8020(20)30171-1 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Čierny, Marek verfasserin aut Novel destabilizing Dynactin variant ( 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants. Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1 Hooshmand, Sam I verfasserin aut Fee, Dominic verfasserin aut Tripathi, Swarnendu verfasserin aut Dsouza, Nikita R. verfasserin aut La Pean Kirschner, Alison verfasserin aut Zimmermann, Michael T. verfasserin aut Brennan, Ryan verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 77, Seite 110-113 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:77 pages:110-113 GBV_USEFLAG_U SYSFLAG_U GBV_ELV GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 77 110-113
allfieldsSound	10.1016/j.parkreldis.2020.06.006 doi (DE-627)ELV004768906 (ELSEVIER)S1353-8020(20)30171-1 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Čierny, Marek verfasserin aut Novel destabilizing Dynactin variant ( 2020 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants. Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1 Hooshmand, Sam I verfasserin aut Fee, Dominic verfasserin aut Tripathi, Swarnendu verfasserin aut Dsouza, Nikita R. verfasserin aut La Pean Kirschner, Alison verfasserin aut Zimmermann, Michael T. verfasserin aut Brennan, Ryan verfasserin aut Enthalten in Parkinsonism & related disorders Amsterdam [u.a.] : Elsevier Science, 1995 77, Seite 110-113 Online-Ressource (DE-627)32448898X (DE-600)2027635-7 (DE-576)272349704 1873-5126 nnns volume:77 pages:110-113 GBV_USEFLAG_U SYSFLAG_U GBV_ELV GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 77 110-113
language	English
source	Enthalten in Parkinsonism & related disorders 77, Seite 110-113 volume:77 pages:110-113
sourceStr	Enthalten in Parkinsonism & related disorders 77, Seite 110-113 volume:77 pages:110-113
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1
dewey-raw	610
isfreeaccess_bool	false
container_title	Parkinsonism & related disorders
authorswithroles_txt_mv	Čierny, Marek @@aut@@ Hooshmand, Sam I @@aut@@ Fee, Dominic @@aut@@ Tripathi, Swarnendu @@aut@@ Dsouza, Nikita R. @@aut@@ La Pean Kirschner, Alison @@aut@@ Zimmermann, Michael T. @@aut@@ Brennan, Ryan @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	32448898X
dewey-sort	3610
id	ELV004768906
language_de	englisch
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author	Čierny, Marek
spellingShingle	Čierny, Marek ddc 610 bkl 44.90 misc Atypical parkinsonism misc DCTN1 misc Dynactin misc Genetics misc Perry disease misc Perry syndrome misc Microtubules misc Type 2 respiratory failure misc Autophagy misc Nocturnal hypopnea misc p150(Glued) misc Protein stability misc Predicted folding free energy misc Protein modeling misc Microtubule associated protein RP/EB family member 1 misc EB1 Novel destabilizing Dynactin variant (
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topic_title	610 DE-600 44.90 bkl Novel destabilizing Dynactin variant ( Atypical parkinsonism DCTN1 Dynactin Genetics Perry disease Perry syndrome Microtubules Type 2 respiratory failure Autophagy Nocturnal hypopnea p150(Glued) Protein stability Predicted folding free energy Protein modeling Microtubule associated protein RP/EB family member 1 EB1
topic	ddc 610 bkl 44.90 misc Atypical parkinsonism misc DCTN1 misc Dynactin misc Genetics misc Perry disease misc Perry syndrome misc Microtubules misc Type 2 respiratory failure misc Autophagy misc Nocturnal hypopnea misc p150(Glued) misc Protein stability misc Predicted folding free energy misc Protein modeling misc Microtubule associated protein RP/EB family member 1 misc EB1
topic_unstemmed	ddc 610 bkl 44.90 misc Atypical parkinsonism misc DCTN1 misc Dynactin misc Genetics misc Perry disease misc Perry syndrome misc Microtubules misc Type 2 respiratory failure misc Autophagy misc Nocturnal hypopnea misc p150(Glued) misc Protein stability misc Predicted folding free energy misc Protein modeling misc Microtubule associated protein RP/EB family member 1 misc EB1
topic_browse	ddc 610 bkl 44.90 misc Atypical parkinsonism misc DCTN1 misc Dynactin misc Genetics misc Perry disease misc Perry syndrome misc Microtubules misc Type 2 respiratory failure misc Autophagy misc Nocturnal hypopnea misc p150(Glued) misc Protein stability misc Predicted folding free energy misc Protein modeling misc Microtubule associated protein RP/EB family member 1 misc EB1
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title	Novel destabilizing Dynactin variant (
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title_full	Novel destabilizing Dynactin variant (
author_sort	Čierny, Marek
journal	Parkinsonism & related disorders
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author_browse	Čierny, Marek Hooshmand, Sam I Fee, Dominic Tripathi, Swarnendu Dsouza, Nikita R. La Pean Kirschner, Alison Zimmermann, Michael T. Brennan, Ryan
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author-letter	Čierny, Marek
doi_str_mv	10.1016/j.parkreldis.2020.06.006
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author2-role	verfasserin
title_sort	novel destabilizing dynactin variant (
title_auth	Novel destabilizing Dynactin variant (
abstract	Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants.
abstractGer	Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants.
abstract_unstemmed	Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. Bioinformatic protein modeling may provide additional window to understand and interpret DCTN1 variants, as we observed non-destabilizing variants to have different phenotype than destabilizing variants.
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title_short	Novel destabilizing Dynactin variant (
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author2	Hooshmand, Sam I Fee, Dominic Tripathi, Swarnendu Dsouza, Nikita R. La Pean Kirschner, Alison Zimmermann, Michael T. Brennan, Ryan
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doi_str	10.1016/j.parkreldis.2020.06.006
up_date	2024-07-07T00:05:14.295Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV004768906</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230524144108.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230503s2020 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.parkreldis.2020.06.006</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV004768906</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1353-8020(20)30171-1</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Čierny, Marek</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Novel destabilizing Dynactin variant (</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.Case description: A fifty-six years-old adopted male presented with atypical parkinsonism with bradykinesia and postural instability, apathy, weight loss, and recurrent respiratory failure due to central hypoventilation requiring tracheostomy.Methods and results: Clinical workup revealed a novel DCTN1 p.Tyr78His variant. Using bioinformatic protein structure modeling, we compare our patient's variant to known DCTN1 mutations and predict protein stability of each variant at the CAP-Gly domain of p150Glued. All eight variants causing Perry syndrome, as well as Tyr78His, are located at site expected to interact with MAPRE1 tail and are predicted to be destabilizing. Variants causing atypical parkinsonism with incomplete Perry syndrome phenotype (K56R and K68E) are not significantly destabilizing in silico.Conclusion: We propose p.Tyr78His as the ninth pathogenic DCTN1 variant causing Perry syndrome. 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Novel destabilizing Dynactin variant (

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