Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain
Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Periñán, Maria Teresa [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020transfer abstract |
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| Schlagwörter: |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors - Zidane, Mustapha ELSEVIER, 2021, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:93 ; year:2020 ; pages:1421-1423 ; extent:3 |
| Links: |
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| DOI / URN: |
10.1016/j.neurobiolaging.2020.04.007 |
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| 520 | |a Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. | ||
| 520 | |a Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. | ||
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| 700 | 1 | |a Gómez-Garre, Pilar |4 oth | |
| 700 | 1 | |a Mir, Pablo |4 oth | |
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10.1016/j.neurobiolaging.2020.04.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001039.pica (DE-627)ELV05066638X (ELSEVIER)S0197-4580(20)30126-3 DE-627 ger DE-627 rakwb eng 550 520 VZ 38.70 bkl 39.53 bkl Periñán, Maria Teresa verfasserin aut Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain 2020transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. LRP10 Elsevier Genetics Elsevier Parkinson’s disease Elsevier Macías-García, Daniel oth Buiza-Rueda, Dolores oth Guijarro-Albaladejo, Beatriz oth Jesús, Silvia oth Adarmes-Gómez, Astrid Daniela oth Escuela, Rocio oth Vigo-Ortega, Rosario oth Gómez-Garre, Pilar oth Mir, Pablo oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:93 year:2020 pages:1421-1423 extent:3 https://doi.org/10.1016/j.neurobiolaging.2020.04.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 93 2020 1421-1423 3 93.2020, 142.e1-, (3 S.) |
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10.1016/j.neurobiolaging.2020.04.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001039.pica (DE-627)ELV05066638X (ELSEVIER)S0197-4580(20)30126-3 DE-627 ger DE-627 rakwb eng 550 520 VZ 38.70 bkl 39.53 bkl Periñán, Maria Teresa verfasserin aut Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain 2020transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. LRP10 Elsevier Genetics Elsevier Parkinson’s disease Elsevier Macías-García, Daniel oth Buiza-Rueda, Dolores oth Guijarro-Albaladejo, Beatriz oth Jesús, Silvia oth Adarmes-Gómez, Astrid Daniela oth Escuela, Rocio oth Vigo-Ortega, Rosario oth Gómez-Garre, Pilar oth Mir, Pablo oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:93 year:2020 pages:1421-1423 extent:3 https://doi.org/10.1016/j.neurobiolaging.2020.04.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 93 2020 1421-1423 3 93.2020, 142.e1-, (3 S.) |
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10.1016/j.neurobiolaging.2020.04.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001039.pica (DE-627)ELV05066638X (ELSEVIER)S0197-4580(20)30126-3 DE-627 ger DE-627 rakwb eng 550 520 VZ 38.70 bkl 39.53 bkl Periñán, Maria Teresa verfasserin aut Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain 2020transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. LRP10 Elsevier Genetics Elsevier Parkinson’s disease Elsevier Macías-García, Daniel oth Buiza-Rueda, Dolores oth Guijarro-Albaladejo, Beatriz oth Jesús, Silvia oth Adarmes-Gómez, Astrid Daniela oth Escuela, Rocio oth Vigo-Ortega, Rosario oth Gómez-Garre, Pilar oth Mir, Pablo oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:93 year:2020 pages:1421-1423 extent:3 https://doi.org/10.1016/j.neurobiolaging.2020.04.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 93 2020 1421-1423 3 93.2020, 142.e1-, (3 S.) |
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10.1016/j.neurobiolaging.2020.04.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001039.pica (DE-627)ELV05066638X (ELSEVIER)S0197-4580(20)30126-3 DE-627 ger DE-627 rakwb eng 550 520 VZ 38.70 bkl 39.53 bkl Periñán, Maria Teresa verfasserin aut Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain 2020transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. LRP10 Elsevier Genetics Elsevier Parkinson’s disease Elsevier Macías-García, Daniel oth Buiza-Rueda, Dolores oth Guijarro-Albaladejo, Beatriz oth Jesús, Silvia oth Adarmes-Gómez, Astrid Daniela oth Escuela, Rocio oth Vigo-Ortega, Rosario oth Gómez-Garre, Pilar oth Mir, Pablo oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:93 year:2020 pages:1421-1423 extent:3 https://doi.org/10.1016/j.neurobiolaging.2020.04.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 93 2020 1421-1423 3 93.2020, 142.e1-, (3 S.) |
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10.1016/j.neurobiolaging.2020.04.007 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001039.pica (DE-627)ELV05066638X (ELSEVIER)S0197-4580(20)30126-3 DE-627 ger DE-627 rakwb eng 550 520 VZ 38.70 bkl 39.53 bkl Periñán, Maria Teresa verfasserin aut Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain 2020transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. LRP10 Elsevier Genetics Elsevier Parkinson’s disease Elsevier Macías-García, Daniel oth Buiza-Rueda, Dolores oth Guijarro-Albaladejo, Beatriz oth Jesús, Silvia oth Adarmes-Gómez, Astrid Daniela oth Escuela, Rocio oth Vigo-Ortega, Rosario oth Gómez-Garre, Pilar oth Mir, Pablo oth Enthalten in Elsevier Science Zidane, Mustapha ELSEVIER Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors 2021 Amsterdam [u.a.] (DE-627)ELV005660645 volume:93 year:2020 pages:1421-1423 extent:3 https://doi.org/10.1016/j.neurobiolaging.2020.04.007 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO SSG-OPC-GEO SSG-OPC-AST 38.70 Geophysik: Allgemeines VZ 39.53 Planeten VZ AR 93 2020 1421-1423 3 93.2020, 142.e1-, (3 S.) |
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Enthalten in Corrigendum to “Electrical and thermal transport properties of Fe–Ni based ternary alloys in the earth's inner core: An ab initio study” [Physics of the Earth and Planetary Interiors Amsterdam [u.a.] volume:93 year:2020 pages:1421-1423 extent:3 |
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Periñán, Maria Teresa @@aut@@ Macías-García, Daniel @@oth@@ Buiza-Rueda, Dolores @@oth@@ Guijarro-Albaladejo, Beatriz @@oth@@ Jesús, Silvia @@oth@@ Adarmes-Gómez, Astrid Daniela @@oth@@ Escuela, Rocio @@oth@@ Vigo-Ortega, Rosario @@oth@@ Gómez-Garre, Pilar @@oth@@ Mir, Pablo @@oth@@ |
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Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain |
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Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. |
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Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. |
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Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson’s disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer’s disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia. |
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Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson’s disease in southern Spain |
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