193 related articles for article (PubMed ID: 31814231)
1. Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
Lynch-Godrei A; De Repentigny Y; Yaworski RA; Gagnon S; Butcher J; Manoogian J; Stintzi A; Kothary R
Neurogastroenterol Motil; 2020 Apr; 32(4):e13773. PubMed ID: 31814231
[TBL] [Abstract][Full Text] [Related]
2. Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
Lynch-Godrei A; De Repentigny Y; Gagnon S; Trung MT; Kothary R
Hum Mol Genet; 2018 Oct; 27(20):3598-3611. PubMed ID: 29982604
[TBL] [Abstract][Full Text] [Related]
3. Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
Ferrier A; Sato T; De Repentigny Y; Gibeault S; Bhanot K; O'Meara RW; Lynch-Godrei A; Kornfeld SF; Young KG; Kothary R
Hum Mol Genet; 2014 May; 23(10):2694-710. PubMed ID: 24381311
[TBL] [Abstract][Full Text] [Related]
4. Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.
Ferrier A; De Repentigny Y; Lynch-Godrei A; Gibeault S; Eid W; Kuo D; Zha X; Kothary R
Autophagy; 2015; 11(7):1025-36. PubMed ID: 26043942
[TBL] [Abstract][Full Text] [Related]
5. Diverse dystonin gene mutations cause distinct patterns of
Yoshioka N; Kabata Y; Kuriyama M; Bizen N; Zhou L; Tran DM; Yano M; Yoshiki A; Ushiki T; Sproule TJ; Abe R; Takebayashi H
Dis Model Mech; 2020 May; 13(5):. PubMed ID: 32482619
[TBL] [Abstract][Full Text] [Related]
6. Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics.
Lynch-Godrei A; Repentigny Y; Ferrier A; Gagnon S; Kothary R
Biochem Cell Biol; 2021 Jun; 99(3):364-373. PubMed ID: 33347391
[TBL] [Abstract][Full Text] [Related]
7. Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality.
Horie M; Mekada K; Sano H; Kikkawa Y; Chiken S; Someya T; Saito K; Hossain MI; Nameta M; Abe K; Sakimura K; Ono K; Nambu A; Yoshiki A; Takebayashi H
Neurobiol Dis; 2016 Dec; 96():271-283. PubMed ID: 27693510
[TBL] [Abstract][Full Text] [Related]
8. Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice.
Horie M; Watanabe K; Bepari AK; Nashimoto J; Araki K; Sano H; Chiken S; Nambu A; Ono K; Ikenaka K; Kakita A; Yamamura K; Takebayashi H
Eur J Neurosci; 2014 Nov; 40(10):3458-71. PubMed ID: 25195653
[TBL] [Abstract][Full Text] [Related]
9. Disruption of dystonin in Schwann cells results in late-onset neuropathy and sensory ataxia.
Horie M; Yoshioka N; Kusumi S; Sano H; Kurose M; Watanabe-Iida I; Hossain I; Chiken S; Abe M; Yamamura K; Sakimura K; Nambu A; Shibata M; Takebayashi H
Glia; 2020 Nov; 68(11):2330-2344. PubMed ID: 32445516
[TBL] [Abstract][Full Text] [Related]
10. HSAN-VI: A spectrum disorder based on dystonin isoform expression.
Lynch-Godrei A; Kothary R
Neurol Genet; 2020 Feb; 6(1):e389. PubMed ID: 32042917
[TBL] [Abstract][Full Text] [Related]
11. Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Fortugno P; Angelucci F; Cestra G; Camerota L; Ferraro AS; Cordisco S; Uccioli L; Castiglia D; De Angelis B; Kurth I; Kornak U; Brancati F
Hum Mutat; 2019 Jan; 40(1):106-114. PubMed ID: 30371979
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations in
Manganelli F; Parisi S; Nolano M; Tao F; Paladino S; Pisciotta C; Tozza S; Nesti C; Rebelo AP; Provitera V; Santorelli FM; Shy ME; Russo T; Zuchner S; Santoro L
Neurology; 2017 May; 88(22):2132-2140. PubMed ID: 28468842
[TBL] [Abstract][Full Text] [Related]
13. Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.
Yoshioka N; Kurose M; Yano M; Tran DM; Okuda S; Mori-Ochiai Y; Horie M; Nagai T; Nishino I; Shibata S; Takebayashi H
Elife; 2022 Aug; 11():. PubMed ID: 35942699
[TBL] [Abstract][Full Text] [Related]
14. Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.
Yoshioka N
Anat Sci Int; 2024 Jan; 99(1):7-16. PubMed ID: 37603210
[TBL] [Abstract][Full Text] [Related]
15. Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.
Lynch-Godrei A; Kothary R
Methods Enzymol; 2016; 569():355-72. PubMed ID: 26778567
[TBL] [Abstract][Full Text] [Related]
16. The
Lalonde R; Strazielle C
J Neurogenet; 2023; 37(4):131-138. PubMed ID: 38465459
[No Abstract] [Full Text] [Related]
17. Neuronal degeneration in autonomic nervous system of Dystonia musculorum mice.
Tseng KW; Peng ML; Wen YC; Liu KJ; Chien CL
J Biomed Sci; 2011 Jan; 18(1):9. PubMed ID: 21272373
[TBL] [Abstract][Full Text] [Related]
18. Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Khalesi R; Harvey N; Garshasbi M; Kalamati E; Youssefian L; Vahidnezhad H; Uitto J
Exp Dermatol; 2022 Jun; 31(6):949-955. PubMed ID: 35276021
[TBL] [Abstract][Full Text] [Related]
19. Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons.
Young KG; Kothary R
Exp Cell Res; 2008 Sep; 314(15):2750-61. PubMed ID: 18638474
[TBL] [Abstract][Full Text] [Related]
20. A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
Sakaria RP; Fonville MP; Peravali S; Zaveri PG; Mroczkowski HJ; Caron E; Weems MF
Am J Med Genet A; 2022 Apr; 188(4):1245-1250. PubMed ID: 34897952
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
