Results 71 to 80 of about 4,506 (155)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 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

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

The FEBS Journal, Volume 292, Issue 18, Page 4854-4869, September 2025.
Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A. Estrella, Partha S. Ghosh, Audrey L. Daugherty, Seth A. Stafki, Louis M. Kunkel, A. Reghan Foley, Sandra Donkervoort, Carsten G. Bönnemann, Laura Toledo‐Bravo de Laguna, Andres Nascimento, Daniel Natera‐de Benito, Isabelle Draper, Christine C. Bruels, Christina A. Pacak, Peter B. Kang   +20 more
wiley   +1 more source

The Potential of SARMs and Antimyostatin Agents in Addressing Lean Body Mass Loss From GLP‐1 Agonists: A Literature Review

Journal of Diabetes, Volume 17, Issue 8, August 2025.
ABSTRACT Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated substantial weight loss effects among patients with diabetes and obesity. However, given the rapid weight loss induced, there is concern about the total change in body composition, including lean body mass (LBM).
Jimmy Wen, Ubaid Ansari, Mouhamad Shehabat, Zaid Ansari, Burhaan Syed, Adam Razick, Daniel Razick, Muzammil Akhtar, Eldo Frezza   +8 more
wiley   +1 more source

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain [PDF]

, 2016
BACKGROUND: Myoclonus-dystonia is a neurogenic movement disorder caused by mutations in the gene encoding ɛ-sarcoglycan. By contrast, mutations in the α-, β-, γ-, and δ-sarcoglycan genes cause limb girdle muscular dystrophies.
Albanese, Allikian, Anderson, Asmus, Bartoli, Bianchini, Blake, Bolduc, Boulay, Breakefield, Cai, Chan, Charlesworth, Chen, Domingo, Draviam, Duclos, Duggan, Esapa, Ettinger, Fanin, Gastaldello, Groh, Grunewald, Han, Helliwell, Heydemann, Hicks, Hjermind, Holt, Imamura, Klinge, Lancioni, Li, Liu, Locke, McNally, Mencacci, Muller, Nguyen, Nigro, Nigro, Nishiyama, Noguchi, Peall, Peall, Peall, Piras, Ritz, Sandona, Saunders-Pullman, Shi, Shiga, Soheili, Straub, Straub, Trinkle-Mulcahy, Vainzof, Waite, Waite, Waite, Wheeler, Yokoi, Zimprich   +63 more
core   +1 more source

Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice

Lipids in Health and Disease
Background Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via apolipoprotein E (ApoE) knockout (KO) drastically exacerbates muscle wasting in Dysf ...
Zeren Sun, Zoe White, Marine Theret, Pascal Bernatchez   +3 more
doaj   +1 more source

Impact of Tandem Repeats on the Scaling of Nucleotide Sequences

, 2005
Techniques such as detrended fluctuation analysis (DFA) and its extensions have been widely used to determine the nature of scaling in nucleotide sequences.
Bashir R., Doggett N. A., MEENAKSHI UPRETI, RADHAKRISHNAN NAGARAJAN, Tavare S.   +4 more
core   +1 more source

Noncoding RNAs and Duchenne muscular dystrophy [PDF]

, 2016
Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs ...
Austin PJ, Butchart LC, Francesco Muntoni, Mark M Perry, Perry MM, Valeria De A   +5 more
core   +1 more source

The functional O-mannose glycan on adystroglycan contains a phospho-ribitol primed for matriglycan addition [PDF]

, 2016
This work was supported in part by grants from NIGMS/NIH (R01GM111939 to LW, P01GM107012, KWM and LW co-PIs), technology resource grants from NIGMS/NIH (P41GM103490, LW and KWM co-PIs and P41GM103390, KWM, PI), a Paul D.
Adzhubei, Baddiley, Barb, Barresi, Baur, Beckett, Beltrán-Valero de Bernabé, Carmignac, Chiba, Cirak, Collins, Damerell, Dobson, Dong, Duclos, Endo, Endo, Ervasti, Ervasti, Fakhouri, Geis, Hara, Hara, Holt, Jae, Kanagawa, Kumagai, Lee, Lee, Lee, Lefeber, Link, Manzini, Meng, Michele, Muntoni, Parsons, Perl, Praissman, Praissman, Pédelacq, Richard, Riemersma, Riemersma, Robu, Roscioli, Sim, Stalnaker, Stalnaker, Tözsér, Vester-Christensen, Vuillaumier-Barrot, Wells, Willer, Willer, Yoshida, Yoshida, Yoshida-Moriguchi, Yoshida-Moriguchi, Yoshida-Moriguchi   +59 more
core   +2 more sources

Genetic screen in Drosophila muscle identifies autophagy-mediated T-tubule remodeling and a Rab2 role in autophagy. [PDF]

, 2017
Transverse (T)-tubules make-up a specialized network of tubulated muscle cell membranes involved in excitation-contraction coupling for power of contraction. Little is known about how T-tubules maintain highly organized structures and contacts throughout
Fujita, Naonobu, Fukuda, Mitsunori, Groulx, Jean-Francois, Huang, Wilson, Jean, Steve, Kiger, Amy A, Koyama-Honda, Ikuko, Kuchitsu, Yoshihiko, Lin, Tzu-Han, Mizushima, Noboru, Nguyen, Jen   +10 more
core   +2 more sources