WebJul 1, 2024 · TMEM106B encodes a lysosomal membrane protein and was initially identified as a risk factor for frontotemporal lobar degeneration. Recently, a dominant D252N … WebJan 19, 2024 · TMEM106B is a lysosomal protein and belongs to the TMEM106 family of proteins with relatively unknown function [ 1, 2 ]. In 2010, a common TMEM106B genetic variant rs1990622 (T>C) was first identified to be associated with frontotemporal dementia (FTD) risk (OR = 1.64 for T allele, allele frequency = 0.679, and P = 1.08E−11) [ 3 ].
TMEM106B and myelination: Rare leukodystrophy families reveal ...
WebAug 11, 2024 · In her study, Dr. Hu sought to identify exactly how that one mutation in TMEM106B could cause so much damage, and to learn more about how the gene regulates the creation of myelin under normal conditions. Her findings point to new insights into the gene’s role in neurodegeneration and sets the groundwork for additional studies into the … bye low
A recurrent TMEM106B mutation in hypomyelinating
WebAug 5, 2024 · The TMEM106B haplotype is known to influence the accumulation of TAR DNA-binding protein 43 kDa (TDP-43) proteinopathy, and the haplotype's large-scale transcriptomic effects include the dysregulation of lysosomal genes and alterations in synaptic gene splicing that are also seen in the pathophysiology of TDP-43 proteinopathy. Webinsolubility of TMEM106B in MS plaques limits debris clearance by the lysosome which over time contributes to failed remyelination and axonal defects. Key Words: Multiple Sclerosis, TMEM106B, myelin oligodendrocyte glycoprotein (MOG)-induced EAE, demyelination, lipids. Abbreviations: APC, adenomatous polyposis coli. CAII, carbonic anhydrase II. WebMar 11, 2024 · In previous work, we showed that the loss of Tmem106b leads to myelination deficits, likely due to developmental deficits ( 8 ). To further characterize the function of Tmem106b in vivo, we performed a thorough histological analysis of the brains from wild-type (WT) and Tmem106b-deficient ( Tmem106b−/−) mice. bye love lyrics