Results 71 to 80 of about 3,302 (205)

Structure of the human ClC-1 chloride channel.

PLoS Biology, 2019
ClC-1 protein channels facilitate rapid passage of chloride ions across cellular membranes, thereby orchestrating skeletal muscle excitability. Malfunction of ClC-1 is associated with myotonia congenita, a disease impairing muscle relaxation.
Kaituo Wang, Sarah Spruce Preisler, Liying Zhang, Yanxiang Cui, Julie Winkel Missel, Christina Grønberg, Kamil Gotfryd, Erik Lindahl, Magnus Andersson, Kirstine Calloe, Pascal F Egea, Dan Arne Klaerke, Michael Pusch, Per Amstrup Pedersen, Z Hong Zhou, Pontus Gourdon   +15 more
doaj   +1 more source

Safety, Pharmacokinetics, and Pharmacodynamics of a First‐in‐Class ClC‐1 Inhibitor to Enhance Muscle Excitability: Phase I Randomized Controlled Trial

Clinical Pharmacology &Therapeutics, Volume 117, Issue 3, Page 768-778, March 2025.
NMD670 is a first‐in‐class inhibitor of skeletal muscle‐specific chloride channel ClC‐1, developed to improve muscle weakness and fatigue in neuromuscular diseases. Preclinical studies show that ClC‐1 inhibition enhances muscle excitability, improving muscle contractility and strength.
Titia Q. Ruijs, Catherine M. K. E. de Cuba, Jules A. A. C. Heuberger, John Hutchison, Jane Bold, Thomas S. Grønnebæk, Klaus G. Jensen, Eva Chin, Jorge A. Quiroz, Thomas K. Petersen, Peter Flagstad, Marieke L. de Kam, Michiel J. van Esdonk, Erica Klaassen, Robert J. Doll, Ingrid W. Koopmans, Annika A. de Goede, Linda B. S. Aulin, Thomas H. Pedersen, Geert Jan Groeneveld   +19 more
wiley   +1 more source

Bestimmung der Bindung von Trijodthyronin an Serumproteine mittels Dextran-Gel-Filtration [PDF]

, 1966
1. Es wird eine Methode zur gleichzeitigen Bestimmung des sog. freien und des proteingebundenen Anteils von in vitro zugesetztem L-Trijodthyronin-131Jod im Serum mittels Dextran-Gel-Filtration angegeben.
A. Cuarón, A. Vanotti, B. E. P. Murphy, B. E. P. Murphy, B. Shapiro, C. M. Blackburn, D. J. Godden, E. C. Albright, F. A. Horster, H. G. Heinze, H. Kutzim, H. Spitzy, J. Benotti, J. L. Rabinowitz, J. Robbins, K. Schwarz, K. Sterling, K. Sterling, K. Sterling, K. Sterling, M. A. Santos, M. Dubravcik, M. Green, M. L. Mitchell, M. L. Mitchell, M. W. Hamolsky, M. W. Hamolsky, N. D. Lee, N. Freinkel, O. R. Lowry, P. C. Scriba, R. Landgraf, R. W. Rawson, S. B. Barker, S. B. Barker, S. B. Barker, S. B. Barker, T. Friis, W. Keiderling, W. Stumpf, W. T. Salter   +40 more
core   +1 more source

Myotonia congenita and myoadenylate deaminase deficiency: case report

Arquivos de Neuro-Psiquiatria, 2003
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance.
Scola Rosana Herminia, Iwamoto Fabio Massaiti, Camargo Carlos Henrique, Arruda Walter Oleschko, Werneck Lineu Cesar   +4 more
doaj  

RAPSN‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN‐associated CMS can be treated with acetylcholinesterase inhibitors.
Laura Keehan, Jennefer N. Carter, Elijah Kravets, Matthew T. Wheeler, Jonathan A. Bernstein, Ricardo A. Maselli, Jacinda B. Sampson, Suha Bachir, Irfan Ahmad   +8 more
wiley   +1 more source

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg, Kristin Allergodt, Annette Mahoney, Ann-Lisbeth Højberg, Somashekhar Marutirao Nimbalkar   +4 more
wiley   +1 more source

Modulation of the slow/common gating of CLC channels by intracellular cadmium. [PDF]

, 2015
Members of the CLC family of Cl(-) channels and transporters are homodimeric integral membrane proteins. Two gating mechanisms control the opening and closing of Cl(-) channels in this family: fast gating, which regulates opening and closing of the ...
Chen, Tsung-Yu, Tsai, Ming-Feng, Yu, Wei-Ping, Yu, Yawei   +3 more
core   +1 more source

The interplay between epitranscriptomic RNA modifications and neurodegenerative disorders: Mechanistic insights and potential therapeutic strategies

Ibrain, Volume 10, Issue 4, Page 395-426, Winter 2024.
This review elucidates the pivotal role of RNA modifications in the etiology and progression of neurodegenerative disorders. RNA modification proteins (RMPs) including FTO, HNRNPA2B1, ADAR1/2, METTL3/14, NSUN2, and ALKBH5 are implicated in initiating dysregulated RNA modifications, thereby disrupting RNA metabolism.
Muhammad Abu Talha Safdar Hashmi, Hooriya Fatima, Sadia Ahmad, Amna Rehman, Fiza Safdar   +4 more
wiley   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

A case with Myotonia Congenita

Eurasian Journal of Medicine, 2019
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İhsan Yaşa, Ferruh Gezen, Vedat Bulut
doaj