The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica"
DOI: 10.1007/s00401-019-02066-0
Abstract: Apart from amyloid β deposition and tau neurofibrillary tangles, Alzheimer's disease (AD) is a neurodegenerative disorder characterized by neuronal loss and astrocytosis in the cerebral cortex. The goal of this study is to investigate genetic… read more here.
Keywords: protective variant; variant rs1990621; tmem106b; neuronal proportion ... See more keywords
The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons.
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DOI: 10.1016/j.celrep.2020.02.060
Abstract: Genetic variations in TMEM106B, coding for a lysosomal membrane protein, affect frontotemporal lobar degeneration (FTLD) in GRN- (coding for progranulin) and C9orf72-expansion carriers and might play a role in aging. To determine the physiological function… read more here.
Keywords: initial segment; axon initial; tmem106b; ftld risk ... See more keywords
Age-dependent formation of TMEM106B amyloid filaments in human brains.
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DOI: 10.1038/s41586-022-04650-z
Abstract: Many age-dependent neurodegenerative diseases, like Alzheimer's and Parkinson's, are characterised by abundant inclusions of amyloid filaments. Filamentous inclusions of the proteins tau, amyloid-β (Aβ), α-synuclein and TDP-43 are the most common1,2. Here, we used electron… read more here.
Keywords: tmem106b; age dependent; human brains; filaments human ... See more keywords
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown
Sign Up to like & getrecommendations! Published in 2018 at "Brain"
DOI: 10.1093/brain/awy284
Abstract: See Bechek and Gitler (doi:10.1093/brain/awy294) for a scientific commentary on this article. Mutations in the endosome-associated protein CHMP2B cause frontotemporal dementia (FTD). Clayton et al. report a mechanism for CHMP2B-mediated neuronal dysfunction and a potential… read more here.
Keywords: frontotemporal dementia; chmp2b; causative chmp2b; dementia causative ... See more keywords
Putative risk alleles for LATE‐NC with hippocampal sclerosis in population‐representative autopsy cohorts
Sign Up to like & getrecommendations! Published in 2019 at "Brain Pathology"
DOI: 10.1111/bpa.12773
Abstract: Limbic‐predominant age‐related TAR‐DNA‐binding protein‐43 (TDP‐43) encephalopathy with hippocampal sclerosis pathology (LATE‐NC + HS) is a neurodegenerative disorder characterized by severe hippocampal CA1 neuron loss and TDP‐43‐pathology, leading to cognitive dysfunction and dementia. Polymorphisms in GRN,… read more here.
Keywords: risk; hippocampal sclerosis; pathology; tmem106b ... See more keywords
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000288
Abstract: Transmembrane protein 106B (TMEM106B; NM_001134232) was recently identified as a gene responsible for a form of hypomyelinating leukodystrophy (HLD).1,2 All 5 cases identified to date carry the identical c.754 G > A, (p.Asp252Asn) mutation.1,2 Although… read more here.
Keywords: hypomyelinating leukodystrophy; dysfunction tmem106b; tmem106b; biology ... See more keywords
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200022
Abstract: Objective To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene. Methods The methods included clinical case description, neurophysiologic assessment,… read more here.
Keywords: movement; tmem106b; may early; early symptoms ... See more keywords
TMEM106B, a risk factor for FTLD and aging, has an intrinsically disordered cytoplasmic domain
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DOI: 10.1371/journal.pone.0205856
Abstract: TMEM106B was initially identified as a risk factor for FTLD, but recent studies highlighted its general role in neurodegenerative diseases. Very recently TMEM106B has also been characterized to regulate aging phenotypes. TMEM106B is a 274-residue… read more here.
Keywords: factor ftld; tmem106b; cytoplasmic domain; risk factor ... See more keywords