Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant-Reference-Cited by-同舟云学术

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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Published:2019-03-23 Issue:2 Volume:20 Page:73-82
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Sánchez-Iglesias Sofía,Crocker Melissa,O’Callaghan Mar,Darling Alejandra,García-Cazorla Angels,Domingo-Jiménez Rosario,Castro Ana,Fernández-Pombo Antía,Ruibal Álvaro,Aguiar Pablo,Garrido-Pumar Miguel,Rodríguez-Núñez Antonio,Álvarez-Escudero Julián,Brown Rebecca J.,Araújo-Vilar David^ORCID

Funder

Instituto de Salud Carlos III

Secretaria Xeral de Investigación e Desenvolvemento, Xunta de Galicia

Fundación Mutua Madrileña

Asociación Española de Familiares y Afectados de Lipodistrofias

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-019-00574-5.pdf

Reference27 articles.

1. Wang H, Becuwe M, Housden BE, Chitraju C, Porras AJ, Graham MM, Liu XN, Thiam AR, Savage DB, Agarwal AK, Garg A, Olarte MJ, Lin Q, Fröhlich F, Hannibal-Bach HK, Upadhyayula S, Perrimon N, Kirchhausen T, Ejsing CS, Walther TC, Farese RV Jr (2016) Seipin is required for converting nascent to mature lipid droplets. Elife 5:e16582

2. Cartwright BR, Goodman JM (2012) Seipin: from human disease to molecular mechanism. J Lipid Res 53(6):1042–1055

3. Sanchez-Iglesias S et al (2019) Does seipin play a role in oxidative stress protection and peroxisome biogenesis? New insights from human brain autopsies. Neuroscience 396:119–137

4. Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson IM (2006) Membrane topology of the human seipin protein. FEBS Lett 580(9):2281–2284

5. Guillen-Navarro E et al (2013) A new seipin-associated neurodegenerative syndrome. J Med Genet 50(6):401–409

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1. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain;Frontiers in Endocrinology;2023-11-16

2. A murine model of BSCL2-associated Celia's encephalopathy;Neurobiology of Disease;2023-10

3. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding;Journal of Clinical Medicine;2021-04-01

4. Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report;Italian Journal of Pediatrics;2020-10-24

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