Associated Papers
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.
Maass F et al.
Movement Disorders Clinical Practice, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
Cheng HL et al.
Gene, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Manini A et al.
Bmc Neurology, 2020
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Fung JLF et al.
Parkinsonism & Related Disorders, 2019
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D et al.
Human Molecular Genetics, 2017
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
Guo YC et al.
Neurology, 2014
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
Li M et al.
Clinical Genetics, 2013
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Guan WJ et al.
Biochemical and Biophysical Research Communications, 2013
Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.
Li MX et al.
Plos Genetics, 2013
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