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Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. Although the role that ABHD12 plays in PHARC is understood,...

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Detalles Bibliográficos
Autores principales: Joshi, Alaumy, Shaikh, Minhaj, Singh, Shubham, Rajendran, Abinaya, Mhetre, Amol, Kamat, Siddhesh S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217928/
https://www.ncbi.nlm.nih.gov/pubmed/30237167
http://dx.doi.org/10.1074/jbc.RA118.005640