Mutation analysis of CHCHD10 in different neurodegenerative diseases
- Autores
- Zhang, Ming; Xi, Zhengrui; Zinman, Lorne; Bruni, Amalia C.; Maletta, Raffaele G.; Curcio, Sabrina A. M.; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Nacmias, Benedetta; Sorbi, Sandro; Galimberti, Daniela; Lang, Anthony E.; Fox, Susan; Surace, Ezequiel Ignacio; Ghani, Mahdi; Guo, Jing; Sato, Christine; Moreno, Danielle; Liang, Yan; Keith, Julia; Traynor, Bryan J.; George-Hyslop, Peter St.; Rogaeva, Ekaterina
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution (c.176C > T; NM_213720.2) in a large French kindred. Affected family members were presented with a complex phenotype that included symptoms of amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), cerebellar ataxia, Parkinson's disease and a mitochondrial myopathy associated with multiple mitochondrial DNA deletions. So far, seven missense CHCHD10 mutations have been reported in patients with a broad phenotypic range, including ALS/FTLD (p.S59L and p.P34S) (Bannwarth et al., 2014; Chaussenot et al., 2014), ALS (p.R15L and p.G66V) (Johnson et al., 2014; Muller et al., 2014), myopathy (p.R15S and p.G58R) (Ajroud-Driss et al., 2015) and late-onset spinal motor neuronopathy (p.G66V) (Penttila et al., 2015). All of them affect exon 2 (a mutational hotspot of CHCHD10).
Fil: Zhang, Ming. University of Toronto; Canadá
Fil: Xi, Zhengrui. University of Toronto; Canadá
Fil: Zinman, Lorne. Sunnybrook Health Sciences Centre; Estados Unidos
Fil: Bruni, Amalia C.. Lamezia Terme. Regional Neurogenetic Centre; Italia
Fil: Maletta, Raffaele G.. Lamezia Terme. Regional Neurogenetic Centre; Italia
Fil: Curcio, Sabrina A. M.. Lamezia Terme. Regional Neurogenetic Centre; Italia
Fil: Rainero, Innocenzo. Università di Torino; Italia
Fil: Rubino, Elisa. Università di Torino; Italia
Fil: Pinessi, Lorenzo. Università di Torino; Italia
Fil: Nacmias, Benedetta. Universita Degli Studi Di Firenze; Italia
Fil: Sorbi, Sandro. Universita Degli Studi Di Firenze; Italia
Fil: Galimberti, Daniela. Università degli Studi di Milano; Italia
Fil: Lang, Anthony E.. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; Canadá
Fil: Fox, Susan. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; Canadá
Fil: Surace, Ezequiel Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina
Fil: Ghani, Mahdi. University of Toronto; Canadá
Fil: Guo, Jing. University of Toronto; Canadá
Fil: Sato, Christine. University of Toronto; Canadá
Fil: Moreno, Danielle. University of Toronto; Canadá
Fil: Liang, Yan. University of Toronto; Canadá
Fil: Keith, Julia. Sunnybrook Health Sciences Centre; Canadá
Fil: Traynor, Bryan J.. National Institute on Aging. Laboratory of Neurogenetics. Neuromuscular Diseases Research Section; Estados Unidos
Fil: George-Hyslop, Peter St.. University of Toronto; Canadá. University of Cambridge; Reino Unido
Fil: Rogaeva, Ekaterina. University of Toronto; Canadá - Materia
-
Dementia
Deurodegeneration
Mitochondria
Amyotrophic Lateral Sclerosis - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/38389
Ver los metadatos del registro completo
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Mutation analysis of CHCHD10 in different neurodegenerative diseasesZhang, MingXi, ZhengruiZinman, LorneBruni, Amalia C.Maletta, Raffaele G.Curcio, Sabrina A. M.Rainero, InnocenzoRubino, ElisaPinessi, LorenzoNacmias, BenedettaSorbi, SandroGalimberti, DanielaLang, Anthony E.Fox, SusanSurace, Ezequiel IgnacioGhani, MahdiGuo, JingSato, ChristineMoreno, DanielleLiang, YanKeith, JuliaTraynor, Bryan J.George-Hyslop, Peter St.Rogaeva, EkaterinaDementiaDeurodegenerationMitochondriaAmyotrophic Lateral Sclerosishttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution (c.176C > T; NM_213720.2) in a large French kindred. Affected family members were presented with a complex phenotype that included symptoms of amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), cerebellar ataxia, Parkinson's disease and a mitochondrial myopathy associated with multiple mitochondrial DNA deletions. So far, seven missense CHCHD10 mutations have been reported in patients with a broad phenotypic range, including ALS/FTLD (p.S59L and p.P34S) (Bannwarth et al., 2014; Chaussenot et al., 2014), ALS (p.R15L and p.G66V) (Johnson et al., 2014; Muller et al., 2014), myopathy (p.R15S and p.G58R) (Ajroud-Driss et al., 2015) and late-onset spinal motor neuronopathy (p.G66V) (Penttila et al., 2015). All of them affect exon 2 (a mutational hotspot of CHCHD10).Fil: Zhang, Ming. University of Toronto; CanadáFil: Xi, Zhengrui. University of Toronto; CanadáFil: Zinman, Lorne. Sunnybrook Health Sciences Centre; Estados UnidosFil: Bruni, Amalia C.. Lamezia Terme. Regional Neurogenetic Centre; ItaliaFil: Maletta, Raffaele G.. Lamezia Terme. Regional Neurogenetic Centre; ItaliaFil: Curcio, Sabrina A. M.. Lamezia Terme. Regional Neurogenetic Centre; ItaliaFil: Rainero, Innocenzo. Università di Torino; ItaliaFil: Rubino, Elisa. Università di Torino; ItaliaFil: Pinessi, Lorenzo. Università di Torino; ItaliaFil: Nacmias, Benedetta. Universita Degli Studi Di Firenze; ItaliaFil: Sorbi, Sandro. Universita Degli Studi Di Firenze; ItaliaFil: Galimberti, Daniela. Università degli Studi di Milano; ItaliaFil: Lang, Anthony E.. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; CanadáFil: Fox, Susan. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; CanadáFil: Surace, Ezequiel Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; ArgentinaFil: Ghani, Mahdi. University of Toronto; CanadáFil: Guo, Jing. University of Toronto; CanadáFil: Sato, Christine. University of Toronto; CanadáFil: Moreno, Danielle. University of Toronto; CanadáFil: Liang, Yan. University of Toronto; CanadáFil: Keith, Julia. Sunnybrook Health Sciences Centre; CanadáFil: Traynor, Bryan J.. National Institute on Aging. Laboratory of Neurogenetics. Neuromuscular Diseases Research Section; Estados UnidosFil: George-Hyslop, Peter St.. University of Toronto; Canadá. University of Cambridge; Reino UnidoFil: Rogaeva, Ekaterina. University of Toronto; CanadáOxford University Press2015-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/38389Zhang, Ming; Xi, Zhengrui; Zinman, Lorne; Bruni, Amalia C.; Maletta, Raffaele G.; et al.; Mutation analysis of CHCHD10 in different neurodegenerative diseases; Oxford University Press; Brain; 138; 9; 9-2015; 1-40006-8950CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awv082info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/brain/article/138/9/e380/309668info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547051/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:21:13Zoai:ri.conicet.gov.ar:11336/38389instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:21:13.75CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| title |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| spellingShingle |
Mutation analysis of CHCHD10 in different neurodegenerative diseases Zhang, Ming Dementia Deurodegeneration Mitochondria Amyotrophic Lateral Sclerosis |
| title_short |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| title_full |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| title_fullStr |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| title_full_unstemmed |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| title_sort |
Mutation analysis of CHCHD10 in different neurodegenerative diseases |
| dc.creator.none.fl_str_mv |
Zhang, Ming Xi, Zhengrui Zinman, Lorne Bruni, Amalia C. Maletta, Raffaele G. Curcio, Sabrina A. M. Rainero, Innocenzo Rubino, Elisa Pinessi, Lorenzo Nacmias, Benedetta Sorbi, Sandro Galimberti, Daniela Lang, Anthony E. Fox, Susan Surace, Ezequiel Ignacio Ghani, Mahdi Guo, Jing Sato, Christine Moreno, Danielle Liang, Yan Keith, Julia Traynor, Bryan J. George-Hyslop, Peter St. Rogaeva, Ekaterina |
| author |
Zhang, Ming |
| author_facet |
Zhang, Ming Xi, Zhengrui Zinman, Lorne Bruni, Amalia C. Maletta, Raffaele G. Curcio, Sabrina A. M. Rainero, Innocenzo Rubino, Elisa Pinessi, Lorenzo Nacmias, Benedetta Sorbi, Sandro Galimberti, Daniela Lang, Anthony E. Fox, Susan Surace, Ezequiel Ignacio Ghani, Mahdi Guo, Jing Sato, Christine Moreno, Danielle Liang, Yan Keith, Julia Traynor, Bryan J. George-Hyslop, Peter St. Rogaeva, Ekaterina |
| author_role |
author |
| author2 |
Xi, Zhengrui Zinman, Lorne Bruni, Amalia C. Maletta, Raffaele G. Curcio, Sabrina A. M. Rainero, Innocenzo Rubino, Elisa Pinessi, Lorenzo Nacmias, Benedetta Sorbi, Sandro Galimberti, Daniela Lang, Anthony E. Fox, Susan Surace, Ezequiel Ignacio Ghani, Mahdi Guo, Jing Sato, Christine Moreno, Danielle Liang, Yan Keith, Julia Traynor, Bryan J. George-Hyslop, Peter St. Rogaeva, Ekaterina |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Dementia Deurodegeneration Mitochondria Amyotrophic Lateral Sclerosis |
| topic |
Dementia Deurodegeneration Mitochondria Amyotrophic Lateral Sclerosis |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution (c.176C > T; NM_213720.2) in a large French kindred. Affected family members were presented with a complex phenotype that included symptoms of amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), cerebellar ataxia, Parkinson's disease and a mitochondrial myopathy associated with multiple mitochondrial DNA deletions. So far, seven missense CHCHD10 mutations have been reported in patients with a broad phenotypic range, including ALS/FTLD (p.S59L and p.P34S) (Bannwarth et al., 2014; Chaussenot et al., 2014), ALS (p.R15L and p.G66V) (Johnson et al., 2014; Muller et al., 2014), myopathy (p.R15S and p.G58R) (Ajroud-Driss et al., 2015) and late-onset spinal motor neuronopathy (p.G66V) (Penttila et al., 2015). All of them affect exon 2 (a mutational hotspot of CHCHD10). Fil: Zhang, Ming. University of Toronto; Canadá Fil: Xi, Zhengrui. University of Toronto; Canadá Fil: Zinman, Lorne. Sunnybrook Health Sciences Centre; Estados Unidos Fil: Bruni, Amalia C.. Lamezia Terme. Regional Neurogenetic Centre; Italia Fil: Maletta, Raffaele G.. Lamezia Terme. Regional Neurogenetic Centre; Italia Fil: Curcio, Sabrina A. M.. Lamezia Terme. Regional Neurogenetic Centre; Italia Fil: Rainero, Innocenzo. Università di Torino; Italia Fil: Rubino, Elisa. Università di Torino; Italia Fil: Pinessi, Lorenzo. Università di Torino; Italia Fil: Nacmias, Benedetta. Universita Degli Studi Di Firenze; Italia Fil: Sorbi, Sandro. Universita Degli Studi Di Firenze; Italia Fil: Galimberti, Daniela. Università degli Studi di Milano; Italia Fil: Lang, Anthony E.. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; Canadá Fil: Fox, Susan. Toronto Western Hospital University Of Toronto; Canadá. University of Toronto; Canadá Fil: Surace, Ezequiel Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; Argentina Fil: Ghani, Mahdi. University of Toronto; Canadá Fil: Guo, Jing. University of Toronto; Canadá Fil: Sato, Christine. University of Toronto; Canadá Fil: Moreno, Danielle. University of Toronto; Canadá Fil: Liang, Yan. University of Toronto; Canadá Fil: Keith, Julia. Sunnybrook Health Sciences Centre; Canadá Fil: Traynor, Bryan J.. National Institute on Aging. Laboratory of Neurogenetics. Neuromuscular Diseases Research Section; Estados Unidos Fil: George-Hyslop, Peter St.. University of Toronto; Canadá. University of Cambridge; Reino Unido Fil: Rogaeva, Ekaterina. University of Toronto; Canadá |
| description |
A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution (c.176C > T; NM_213720.2) in a large French kindred. Affected family members were presented with a complex phenotype that included symptoms of amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), cerebellar ataxia, Parkinson's disease and a mitochondrial myopathy associated with multiple mitochondrial DNA deletions. So far, seven missense CHCHD10 mutations have been reported in patients with a broad phenotypic range, including ALS/FTLD (p.S59L and p.P34S) (Bannwarth et al., 2014; Chaussenot et al., 2014), ALS (p.R15L and p.G66V) (Johnson et al., 2014; Muller et al., 2014), myopathy (p.R15S and p.G58R) (Ajroud-Driss et al., 2015) and late-onset spinal motor neuronopathy (p.G66V) (Penttila et al., 2015). All of them affect exon 2 (a mutational hotspot of CHCHD10). |
| publishDate |
2015 |
| dc.date.none.fl_str_mv |
2015-09 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
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publishedVersion |
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http://hdl.handle.net/11336/38389 Zhang, Ming; Xi, Zhengrui; Zinman, Lorne; Bruni, Amalia C.; Maletta, Raffaele G.; et al.; Mutation analysis of CHCHD10 in different neurodegenerative diseases; Oxford University Press; Brain; 138; 9; 9-2015; 1-4 0006-8950 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/38389 |
| identifier_str_mv |
Zhang, Ming; Xi, Zhengrui; Zinman, Lorne; Bruni, Amalia C.; Maletta, Raffaele G.; et al.; Mutation analysis of CHCHD10 in different neurodegenerative diseases; Oxford University Press; Brain; 138; 9; 9-2015; 1-4 0006-8950 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
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info:eu-repo/semantics/altIdentifier/doi/10.1093/brain/awv082 info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/brain/article/138/9/e380/309668 info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547051/ |
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Oxford University Press |
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Oxford University Press |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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