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TGM6 variants in Parkinson's disease: clinical findings and functional evidence.
Chen K, Lu Y, Peng F, Yu HL, Wu JY, Tan Y, Zhao YX. Chen K, et al. J Integr Neurosci. 2020 Mar 30;19(1):51-64. doi: 10.31083/j.jin.2020.01.1203. J Integr Neurosci. 2020. PMID: 32259886 Free article.
The characteristics of these TGM6 carriers were summarized. To clarify the role of TGM6 variants in Parkinson's disease, we constructed the plasmids of wild-type TGM6 and TGM6 p.R111C, p.P359L, p.L517W to transfect A53T-SH-SY5Y cells and conducted tran …
The characteristics of these TGM6 carriers were summarized. To clarify the role of TGM6 variants in Parkinson's disease, we co …
Hereditary Ataxia Overview.
Perlman S. Perlman S. 1998 Oct 28 [updated 2023 Nov 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Oct 28 [updated 2023 Nov 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301317 Free Books & Documents. Review.
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35.
Chen Y, Wu D, Luo B, Zhao G, Wang K. Chen Y, et al. Neurol Genet. 2020 Apr 22;6(3):e424. doi: 10.1212/NXG.0000000000000424. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32426513 Free PMC article.
OBJECTIVE: To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene TGM6. ...CONCLUSIONS: The nonsegregation of the TGM6 variant with phenotype d …
OBJECTIVE: To investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported …
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
Cheng HL, Dong HL, Liu DS, Ni W, Ma Y, Yang L, Du YC, Chen DF, Dong Y, Wu ZY. Cheng HL, et al. Gene. 2021 May 5;779:145495. doi: 10.1016/j.gene.2021.145495. Epub 2021 Feb 13. Gene. 2021. PMID: 33588035
OBJECTIVE: To investigate whether TGM6 is a specific causative gene for spinocerebellar ataxia type 35 (SCA35). ...RESULTS: Two TGM6 detrimental variants were identified in one SCA patient, 14 in non-SCA patients and 43 in normal controls, the allele frequencies of …
OBJECTIVE: To investigate whether TGM6 is a specific causative gene for spinocerebellar ataxia type 35 (SCA35). ...RESULTS: Two TG
TGM6, a helminth secretory product, mimics TGF-beta binding to TbetaRII to antagonize TGF-beta signaling in fibroblasts.
White SE, Schwartze TA, Mukundan A, Schoenherr C, Singh SP, van Dinther M, Cunningham KT, White MPJ, Campion T, Pritchard J, Hinck CS, Ten Dijke P, Inman G, Maizels RM, Hinck AP. White SE, et al. bioRxiv [Preprint]. 2023 Dec 23:2023.12.22.573140. doi: 10.1101/2023.12.22.573140. bioRxiv. 2023. PMID: 38187573 Free PMC article. Preprint.
However, TGM6 does not bind CD44 and is unable to inhibit TGF-beta and TGM1 signaling in T cells. To understand how TGM6 binds TbetaRII, the X-ray crystal structure of the TGM6 domain 3 bound to TbetaRII was determined at 1.4 A. ...
However, TGM6 does not bind CD44 and is unable to inhibit TGF-beta and TGM1 signaling in T cells. To understand how TGM6 binds …
TGM6 gene mutations in undiagnosed cerebellar ataxia patients.
Yang ZH, Shi MM, Liu YT, Wang YL, Luo HY, Wang ZL, Shi CH, Xu YM. Yang ZH, et al. Parkinsonism Relat Disord. 2018 Jan;46:84-86. doi: 10.1016/j.parkreldis.2017.07.001. Epub 2017 Jul 4. Parkinsonism Relat Disord. 2018. PMID: 28927799 No abstract available.
Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.
Sharawat IK, Panda PK, Bhunia NS, Dawman L. Sharawat IK, et al. J Neurosci Rural Pract. 2021 Sep 20;12(4):656-665. doi: 10.1055/s-0041-1734006. eCollection 2021 Oct. J Neurosci Rural Pract. 2021. PMID: 34737499 Free PMC article.
Until now, more than 20 genes have been implicated to be associated with this phenotype and TGM6 is one of these genes, associated with spinocerebellar ataxia-35 (SCA-35). ...Methods We report the first Indian case with SCA-35 in a 16-year-old-boy with atypical age of onse …
Until now, more than 20 genes have been implicated to be associated with this phenotype and TGM6 is one of these genes, associated wi …
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS. Wang JL, et al. Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23. Brain. 2010. PMID: 21106500
Here, we used a combined strategy of exome sequencing and linkage analysis to identify a novel spinocerebellar ataxia causative gene, TGM6. We sequenced the whole exome of four patients in a Chinese four-generation spinocerebellar ataxia family and identified a missense mu …
Here, we used a combined strategy of exome sequencing and linkage analysis to identify a novel spinocerebellar ataxia causative gene, TGM
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Fung JLF, Tsang MHY, Leung GKC, Yeung KS, Mak CCY, Fung CW, Chan SHS, Yu MHC, Chung BHY. Fung JLF, et al. Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17. Parkinsonism Relat Disord. 2019. PMID: 30670339
Spinocerebellar ataxia 35 (SCA35) has been associated with pathogenic mutations in the gene TGM6. In a Chinese exome sequencing cohort, we identified 8 families with reported TGM6 variants sharing no features of SCA35. ...Gene constraint metrics showed that both mis …
Spinocerebellar ataxia 35 (SCA35) has been associated with pathogenic mutations in the gene TGM6. In a Chinese exome sequencing cohor …
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D, Vignoli B, Ramesh N, Polanco MJ, Coutelier M, Stephen CD, Canossa M, Monin ML, Aeschlimann P, Turberville S, Aeschlimann D, Schmahmann JD, Hadjivassiliou M, Durr A, Pandey UB, Pennuto M, Basso M. Tripathy D, et al. Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259. Hum Mol Genet. 2017. PMID: 28934387
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism. We identified seven patien …
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, w …
59 results