Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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Full title
Author / Creator
Pant, Devesh C , Dorboz, Imen , Schluter, Agatha , Fourcade, Stéphane , Launay, Nathalie , Joya, Javier , Aguilera-Albesa, Sergio , Yoldi, Maria Eugenia , Casasnovas, Carlos , Willis, Mary J , Ruiz, Montserrat , Ville, Dorothée , Lesca, Gaetan , Siquier-Pernet, Karine , Desguerre, Isabelle , Yan, Huifang , Wang, Jingmin , Burmeister, Margit , Brady, Lauren , Tarnopolsky, Mark , Cornet, Carles , Rubbini, Davide , Terriente, Javier , James, Kiely N , Musaev, Damir , Zaki, Maha S , Patterson, Marc C , Lanpher, Brendan C , Klee, Eric W , Pinto E Vairo, Filippo , Wohler, Elizabeth , Sobreira, Nara Lygia de M , Cohen, Julie S , Maroofian, Reza , Galehdari, Hamid , Mazaheri, Neda , Shariati, Gholamreza , Colleaux, Laurence , Rodriguez, Diana , Gleeson, Joseph G , Pujades, Cristina , Fatemi, Ali , Boespflug-Tanguy, Odile and Pujol, Aurora
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic reticulum lipid desaturase DEGS1 as the causative gene in 19 patients from 13 unrelated families. Shared features among the...
Alternative Titles
Full title
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Authors, Artists and Contributors
Author / Creator
Dorboz, Imen
Schluter, Agatha
Fourcade, Stéphane
Launay, Nathalie
Joya, Javier
Aguilera-Albesa, Sergio
Yoldi, Maria Eugenia
Casasnovas, Carlos
Willis, Mary J
Ruiz, Montserrat
Ville, Dorothée
Lesca, Gaetan
Siquier-Pernet, Karine
Desguerre, Isabelle
Yan, Huifang
Wang, Jingmin
Burmeister, Margit
Brady, Lauren
Tarnopolsky, Mark
Cornet, Carles
Rubbini, Davide
Terriente, Javier
James, Kiely N
Musaev, Damir
Zaki, Maha S
Patterson, Marc C
Lanpher, Brendan C
Klee, Eric W
Pinto E Vairo, Filippo
Wohler, Elizabeth
Sobreira, Nara Lygia de M
Cohen, Julie S
Maroofian, Reza
Galehdari, Hamid
Mazaheri, Neda
Shariati, Gholamreza
Colleaux, Laurence
Rodriguez, Diana
Gleeson, Joseph G
Pujades, Cristina
Fatemi, Ali
Boespflug-Tanguy, Odile
Pujol, Aurora
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6391109
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6391109
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI123959
