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Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

ABSTRACT: In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare it to the mice MLIV CSF. We define possible biomarkers for this devastating disease.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Brain

SUBMITTER: Amir Prior

LAB HEAD: Anthony H. Futerman

PROVIDER: PXD020491 | Pride | 2021-08-10

REPOSITORIES: Pride

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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.

Vardi Ayelet A Pri-Or Amir A Wigoda Noa N Grishchuk Yulia Y Futerman Anthony H AH

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]

PMID: 33478506

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Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

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