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Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.
Cerebellum. 2019 Apr;18(2):291-294. doi: 10.1007/s12311-018-0978-6.
2
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.
3
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Biochem Biophys Res Commun. 2013 Jan 11;430(2):780-6. doi: 10.1016/j.bbrc.2012.11.069. Epub 2012 Dec 1.
4
Mutations in TGM6 induce the unfolded protein response in SCA35.
Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259.
6
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
Neurology. 2014 Oct 21;83(17):1554-61. doi: 10.1212/WNL.0000000000000909. Epub 2014 Sep 24.
7
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17.
8
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
9
TGM6 gene mutations in undiagnosed cerebellar ataxia patients.
Parkinsonism Relat Disord. 2018 Jan;46:84-86. doi: 10.1016/j.parkreldis.2017.07.001. Epub 2017 Jul 4.

引用本文的文献

1
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.
Mov Disord Clin Pract. 2023 Mar 27;10(6):1016-1019. doi: 10.1002/mdc3.13717. eCollection 2023 Jun.
2
A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.
Cerebellum. 2024 Apr;23(2):702-721. doi: 10.1007/s12311-023-01554-0. Epub 2023 Mar 31.
3
Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.
J Neurosci Rural Pract. 2021 Sep 20;12(4):656-665. doi: 10.1055/s-0041-1734006. eCollection 2021 Oct.
4
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
BMC Neurol. 2020 Nov 7;20(1):408. doi: 10.1186/s12883-020-01964-1.
5
L517W is not a pathogenic variant for spinocerebellar ataxia type 35.
Neurol Genet. 2020 Apr 22;6(3):e424. doi: 10.1212/NXG.0000000000000424. eCollection 2020 Jun.
6
An Overview of the Current State and the Future of Ataxia Treatments.
Neurol Clin. 2020 May;38(2):449-467. doi: 10.1016/j.ncl.2020.01.008. Epub 2020 Feb 27.

本文引用的文献

1
Mutations in TGM6 induce the unfolded protein response in SCA35.
Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259.
2
TGM6 gene mutations in undiagnosed cerebellar ataxia patients.
Parkinsonism Relat Disord. 2018 Jan;46:84-86. doi: 10.1016/j.parkreldis.2017.07.001. Epub 2017 Jul 4.
3
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.
Neurology. 2014 Oct 21;83(17):1554-61. doi: 10.1212/WNL.0000000000000909. Epub 2014 Sep 24.
4
Transglutaminase 6 antibodies in the diagnosis of gluten ataxia.
Neurology. 2013 May 7;80(19):1740-5. doi: 10.1212/WNL.0b013e3182919070. Epub 2013 Apr 10.
5
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Biochem Biophys Res Commun. 2013 Jan 11;430(2):780-6. doi: 10.1016/j.bbrc.2012.11.069. Epub 2012 Dec 1.
6
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.
Clin Genet. 2013 Mar;83(3):269-73. doi: 10.1111/j.1399-0004.2012.01895.x. Epub 2012 May 29.
7
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
8
Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia.
Amino Acids. 2010 Nov;39(5):1183-91. doi: 10.1007/s00726-010-0554-y. Epub 2010 Mar 19.
9
Anti transglutaminase antibodies cause ataxia in mice.
PLoS One. 2010 Mar 15;5(3):e9698. doi: 10.1371/journal.pone.0009698.
10
Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase.
Ann Neurol. 2008 Sep;64(3):332-43. doi: 10.1002/ana.21450.

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