Results 101 to 110 of about 30,474 (227)

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain [PDF]

, 2016
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) cause severe peripheral motor and sensory neuropathies called Charcot-Marie-Tooth disease.
Berger, Imre, Bieniossek, Christoph, Elsässer, Hans-Peter, Huber, Nina, Niemann, Axel, Suter, Ueli, Wagner, Konstanze Marion   +6 more
core   +2 more sources

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

Nature Communications, 2018
Charcot–Marie–Tooth disease 1A (CMT1A) is a peripheral demyelinating disease. Here, the authors demonstrate in a rodent model of CMT1A that Schwann cells have impairments in lipid biosynthesis, and that restoring lipids via diet can reverse the ...
R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda   +24 more
doaj   +1 more source

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families [PDF]

, 2010
Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, Michael B Russell, H Skre, PJ Dyck, AE Harding, G Nicholson, AE Harding, K Kijima, VH Lawson, K Verhoeven, A Santel, M Rojo, H Skre, H Skre, H Skre, PJ Dyck, S Rozen, JT den Dunnen, NK Aarskog, S Züchner, C Neusch, K Engelfried, I Banchs, D Zhu, KW Chung, S Züchner   +28 more
core   +1 more source

PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]

, 2017
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong, Connolly, Anne M, Grider, Tiffany, Kamholz, John, Lupski, James R, Shy, Michael E, Wang, David S, Wu, Xingyao, Zaidman, Craig   +8 more
core   +2 more sources

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing [PDF]

, 2014
Helle Høyer, Geir J. Braathen, Øyvind L. Busk, Øystein L. Holla, Marit Svendsen, Hilde Tveitan Hilmarsen, Linda M. Strand, Camilla Furu Skjelbred, Michael Bjørn Russell   +8 more
openalex   +1 more source

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project [PDF]

, 2020
Menelaos Pipis, Henry Houlden, Mary M. Reilly   +2 more
openalex   +1 more source

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

Frontiers in Neurology
This report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle
Gao-Hui Cao, Mei-Fang Zhao, Yi Dong, Liang-Liang Fan, Yi-Hui Liu, Yao Deng, Lu-Lu Tang   +6 more
doaj   +1 more source

Fly model causes neurological rethink

eLife, 2013
A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.
Madhumala K Sadanandappa, Mani Ramaswami
doaj   +1 more source

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells [PDF]

, 2017
Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease.
Baumann, Reto, Horn, Michael, Lühmann, Tessa, Pereira, Jorge A., Relvas, João B., Senderek, Jan, Sidiropoulos, Páris N. M., Somandin, Christian, Stendel, Claudia, Suter, Ueli, Toyka, Klaus V., Welzl, Hans, Wessig, Carsten   +12 more
core  

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report [PDF]

, 2021
Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolísek, Peter Valkovič, Matěj Škorvánek, Rafał Płoski, Egon Kurča, Štefan Sivák   +10 more
openalex   +1 more source