Autophagic dysfunction in mucolipidosis type IV patients.

Vergarajauregui, Silvia; S Connelly, Patricia; P Daniels, Mathew; Puertollano, Rosa

doi:10.1093/hmg/ddn174

Public

Autophagic dysfunction in mucolipidosis type IV patients.

Shared by NobleBlocks on Sep 1, 2008 • 12:00 AM UTC

Authors:

Silvia Vergarajauregui

Patricia S Connelly

Mathew P Daniels

Abstract

Mutations in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by several neurological and ophthalmological abnormalities. It has been proposed that MCOLN1 might regulate transport of membrane components in the late endosomal-lysosomal p...

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!