Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

Summary: Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many individuals remain without a molecular diagno...

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Main Authors: Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:HGG Advances
Subjects:
LSM7
LSM1-7 complex
LSM2-8 complex
neurodevelopment
leukodystrophy
leukoencephalopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000154

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