Varaico: Literature-Extracted Genetic Variants

Gene:TMEM106B
Variant:p.T185S
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TMEM106B

NM_001134232.2:p.T185S

Associated Papers

Genetic variation in TMEM106B alters microglial activation and cytokine responses in chronic traumatic encephalopathy.

Hartman S et al.

Acta Neuropathologica, 2025

TMEM106B Supports Viral Entry and Syncytia Formation Mediated by the Spike Proteins From Omicron BA.2.86 and JN.1.

Wang Y et al.

Journal of Medical Virology, 2025

A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.

Kennedy JC et al.

Med (new York, N.y.), 2025

Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health.

Perneel J et al.

Molecular Neurodegeneration, 2025

iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

Busquets O et al.

Biorxiv : the Preprint Server for Biology, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Risk and progression of frontotemporal dementia in carriers of the TMEM106B protective genotype and its relationship with TDP-43 pathology.

Gomes KB

Annals of Translational Medicine, 2024

Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease.

Azaria RD et al.

Journal of Neuropathology and Experimental Neurology, 2024

GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia.

Shade LMP et al.

Nature Genetics, 2024

39379761 (PubMed )
Supplement: 41588_2024_1939_MOESM3_ESM.xlsx › Supplementary_Table_4

Lysosomal TMEM106B interacts with galactosylceramidase to regulate myelin lipid metabolism.

Takahashi H et al.

Communications Biology, 2024

A common Alu insertion in the 3'UTR of TMEM106B is associated with risk of dementia.

Rodney A et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Association of TMEM106B with Cortical APOE Gene Expression in Neurodegenerative Conditions.

Picard C et al.

Genes, 2024

TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy.

Edwards GA et al.

Acta Neuropathologica, 2024

A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP.

Chemparathy A et al.

Neurology. Genetics, 2024

TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.

Marks JD et al.

Science Translational Medicine, 2024

A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated with Increased Risk for FTLD-TDP.

Chemparathy A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

TMEM106B reduction does not rescue GRN deficiency in iPSC-derived human microglia and mouse models.

Dominguez SL et al.

Iscience, 2023

C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.

T Vicente C et al.

Brain : a Journal of Neurology, 2023

The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus.

Lee JY et al.

Molecular Neurodegeneration, 2023

Lysosomal TMEM106B interacts with galactosylceramidase to regulate myelin lipid metabolism.

Takahashi H et al.

Biorxiv : the Preprint Server for Biology, 2023

TMEM106B aggregation in neurodegenerative diseases: linking genetics to function.

Jiao HS et al.

Molecular Neurodegeneration, 2023

TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy.

Edwards GA et al.

Biorxiv : the Preprint Server for Biology, 2023

Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging.

Perneel J et al.

Acta Neuropathologica, 2023

Lack of a protective effect of the Tmem106b "protective SNP" in the Grn knockout mouse model for frontotemporal lobar degeneration.

Cabron AS et al.

Acta Neuropathologica Communications, 2023

The major TMEM106B dementia risk allele affects TMEM106B protein levels and myelin lipid homeostasis in the ageing human hippocampus.

Lee JY et al.

Research Square, 2023

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family.

Perneel J et al.

Frontiers in Neurology, 2023

The TMEM106B T186S coding variant increases neurite arborization and synaptic density in primary hippocampal neurons.

Nguyen Q et al.

Frontiers in Neuroscience, 2023

Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease.

Perneel J et al.

Acta Neuropathologica, 2022

TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.

Manini A et al.

International Journal of Molecular Sciences, 2022

Amyloid fibrils in FTLD-TDP are composed of TMEM106B and not TDP-43.

Jiang YX et al.

Nature, 2022

Age-dependent formation of TMEM106B amyloid filaments in human brains.

Schweighauser M et al.

Nature, 2022

Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases.

Chang A et al.

Cell, 2022

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.

Bauer CS et al.

Frontiers in Cellular Neuroscience, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels.

Hong S et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

A molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech.

Josephs KA et al.

Nature Communications, 2021

Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Seto M et al.

Molecular Neurodegeneration, 2021

Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases.

Farias FHG et al.

Neurobiology of Disease, 2021

Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders.

Feng T et al.

Acta Neuropathologica, 2021

Lysosomal Dysfunction and Other Pathomechanisms in FTLD: Evidence from Progranulin Genetics and Biology.

Zhou X et al.

Advances in Experimental Medicine and Biology, 2021

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T13

Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.

Zhou X et al.

Brain : a Journal of Neurology, 2020

The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons.

Lüningschrör P et al.

Cell Reports, 2020

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.

Li Z et al.

Acta Neuropathologica, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."