Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Cerebrospinal Fluid
SUBMITTER: Amir Prior
LAB HEAD: Anthony H. Futerman
PROVIDER: PXD020490 | Pride | 2021-08-10
REPOSITORIES: Pride
Orphanet journal of rare diseases 20210121 1
<h4>Background</h4>Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential channel TRPML1 (mucolipin 1). The precise pathophysiogical pathways that cause neurological disease in MLIV are poorly understood. Recently, the first post-mortem brain sample became available from a single MLIV patient, and in the current study we performed mass spectro ...[more]