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Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 ( PLP1 ), a major myelin protein.
This condition was first discovered in 1964 by E Zerbin-Rüdin et al. when they described (what they thought to be) a familial autosomal dominant variant of Pelizaeus-Merzbacher disease with onset in adulthood. [32]
While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset. Treatment options are limited, although hematopoietic stem cell transplantations using bone marrow or cord blood seem to help in certain leukodystrophy types, while ...
Pelizaeus–Merzbacher disease: SPG3A: 182600: ATL1: ... The majority of individuals with HSP have a normal life expectancy. ... Toggle the table of contents.
Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease.It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane.
In a myelinoid model of Pelizaeus-Merzbacher disease (PMD) developed in 2018, treatment with a modulator of ER stress pathways called GSK2656157, an inhibitor of protein-kinase-R-like ER kinase, partially rescued PLP1 perinuclear retention mobilizing it away from the ER and into the processes of oligodendrocytes. [2]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
20502 Ensembl ENSG00000147100 ENSMUSG00000033965 UniProt P36021 O70324 RefSeq (mRNA) NM_006517 NM_009197 RefSeq (protein) NP_006508 NP_006508.2 NP_033223 Location (UCSC) Chr X: 74.42 – 74.53 Mb Chr X: 102.74 – 102.87 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Monocarboxylate transporter 8 (MCT8) is an active transporter protein that in humans is encoded by the SLC16A2 gene ...