Proteomic Investigations into Adult Polyglucosan Body Disease
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ABSTRACT: Adult polyglucosan body disease is a rare autosomal recessive neurologicla disorder with progressive paralysis, sensory deficits, and neurogenic bladder usually manifesting late in life. The disease is derived from glycogen branching enzyme deficiency that leads to aggregation of polyglucosan bodies in many cell types. This project focuses on delinating disease mechanisms in APBD through studying the proteomes of lymphoblasts of 3 patients with APBD and comparing them to several controls.
INSTRUMENT(S): LTQ Orbitrap Elite
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Leukocyte, Blood
DISEASE(S): Neurodegenerative Disease
SUBMITTER: Kathleen Lundberg
LAB HEAD: Marvin Natowicz
PROVIDER: PXD012558 | Pride | 2023-11-08
REPOSITORIES: Pride
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