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Items: 11

Select item 86827961.

Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model

Ramesh K Narayanan, Megan H Brewer, Gonzalo Perez-Siles, Melina Ellis, Carolyn Ly, Andrew Burgess, Brent Neumann, Garth A Nicholson, Steve Vucic, Marina L Kennerson

Hum Mol Genet. 2022 Jan 1; 31(1): 133–145. Published online 2021 Aug 13. doi: 10.1093/hmg/ddab228

PMCID:: PMC8682796

Article PDF–1.2M

Select item 72750852.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

G. Perez-Siles, A. Cutrupi, M. Ellis, R. Screnci, D. Mao, M. Uesugi, Eppie M. Yiu, Monique M. Ryan, B. O. Choi, G. Nicholson, M. L. Kennerson

Sci Rep. 2020; 10: 9262. Published online 2020 Jun 5. doi: 10.1038/s41598-020-66266-5

PMCID:: PMC7275085

Article PDF–11M

Select item 35968513.

A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Marina L. Kennerson, Eppie M. Yiu, David T. Chuang, Aditi Kidambi, Shih-Chia Tso, Carolyn Ly, Rabia Chaudhry, Alexander P. Drew, Gary Rance, Martin B. Delatycki, Stephan Züchner, Monique M. Ryan, Garth A. Nicholson

Hum Mol Genet. 2013 Apr 1; 22(7): 1404–1416. Published online 2013 Jan 7. doi: 10.1093/hmg/dds557

PMCID:: PMC3596851

Article PDF–459K

Select item 76555884.

A novel model of non-alcoholic steatohepatitis with fibrosis and carcinogenesis in connexin 32 dominant-negative transgenic rats

Aya Naiki-Ito, Hiroyuki Kato, Taku Naiki, Ranchana Yeewa, Yoshinaga Aoyama, Yuko Nagayasu, Shugo Suzuki, Shingo Inaguma, Satoru Takahashi

Arch Toxicol. 2020; 94(12): 4085–4097. Published online 2020 Aug 24. doi: 10.1007/s00204-020-02873-5

PMCID:: PMC7655588

Article PDF–2.0M

Select item 74965965.

Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany

S. Rudnik‐Schöneborn, S. Thiele, M. C. Walter, L. Reinecke, M. Sereda, R. Schöneborn, M. Elbracht

Eur J Neurol. 2020 Aug; 27(8): 1390–1396. Published online 2020 Jun 16. doi: 10.1111/ene.14317

PMCID:: PMC7496596

Article PDF–409K

Select item 55625606.

Intermediate Charcot-Marie-Tooth disease

Lei Liu, Ruxu Zhang

Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7

PMCID:: PMC5562560

Article PDF–394K

Select item 39953317.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Arianna Tucci, Yo-Tsen Liu, Elisabeth Preza, Robert D S Pitceathly, Annapurna Chalasani, Vincent Plagnol, John M Land, Daniah Trabzuni, Mina Ryten, on behalf of UKBEC, Zane Jaunmuktane, Mary M Reilly, Sebastian Brandner, Iain Hargreaves, John Hardy, Andrew B Singleton, Andrey Y Abramov, Henry Houlden

J Neurol Neurosurg Psychiatry. 2014 May; 85(5): 486–492. Published online 2013 Nov 6. doi: 10.1136/jnnp-2013-306387

PMCID:: PMC3995331

Article PDF–1.1M

Select item 37718708.

Gap junctions in inherited human disorders of the central nervous system

Charles K. Abrams, Steven S. Scherer

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Sep 12.

Published in final edited form as: Biochim Biophys Acta. 2012 Aug; 1818(8): 2030–2047. Published online 2011 Aug 16. doi: 10.1016/j.bbamem.2011.08.015