Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and ex...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2014
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3928657/
https://ncbi.nlm.nih.gov/pubmed/24388663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.005
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg