Results 61 to 70 of about 841 (164)

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

PLoS ONE, 2017
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno   +3 more
doaj   +1 more source

Treating pediatric neuromuscular disorders: The future is now

American Journal of Medical Genetics Part A, Volume 176, Issue 4, Page 804-841, April 2018., 2018
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review.
James J. Dowling, Hernan D. Gonorazky, Ronald D. Cohn, Craig Campbell   +3 more
wiley   +1 more source

Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice

The FASEB Journal, Volume 38, Issue 14, 31 July 2024.
In resting control skeletal muscles, store operated Ca2+ entry (SOCE) is low, and sarcoplasmic reticulum (SR) Ca2+ stores are high. Exercise depletes SR Ca2+ and triggers SOCE. Loss of Calpain 3 elevates resting SOCE and disrupts exercise induced SOCE.
Katelyn R. Villani, Renjia Zhong, C. Spencer Henley‐Beasley, Giorgia Rastelli, Erin Harris, Simona Boncompagni, Elisabeth R. Barton, Lan Wei‐LaPierre   +7 more
wiley   +1 more source

Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy

Molecular Therapy: Methods & Clinical Development, 2019
We delivered plasmid DNA encoding therapeutic genes to the muscles of mouse models of limb girdle muscular dystrophy (LGMD) 2A, 2B, and 2D, deficient in calpain3, dysferlin, and alpha-sarcoglycan, respectively.
Tuhin K. Guha, Christophe Pichavant, Michele P. Calos   +2 more
doaj   +1 more source

Missense SNPs in human CAPN8 and CAPN9 and related LGMD2A pathogenic mutations in CAPN3.

, 2016
Missense SNPs in human CAPN8 and CAPN9 and related LGMD2A pathogenic mutations in CAPN3.
Hidenori Suzuki (189652), Hiroyuki Sorimachi (189055), Kenji Sakimura (47744), Noriko Toyama-Sorimachi (362855), Fujiko Kitamura (362854), Keiko Abe (135928), Manabu Abe (362853), Shoji Hata (362852)   +7 more
core   +1 more source

Distribution of muscle biopsies taken from 10 LGMD2A patients and 10 control subjects.

, 2013
Distribution of muscle biopsies taken from 10 LGMD2A patients and 10 control subjects.
Isabel Illa (191596), Carolina De la Torre (375792), Amets Sáenz (375783), Carmen Navarro (29361), Gaspar De la Herran (375788), Eduard Gallardo (191567), Ainhoa Alzualde (322313), Julián Corcuera (375789), Federico García-Bragado (375786), France Leturcq (374621), Ana Cabello (375791), Adolfo López de Munain (3534185), Margarita Azpitarte (375784), Rubén Armañanzas (5653888), Iñaki Inza (261838)   +14 more
core   +1 more source

Expression and autolysis of CAPN3 in quadriceps muscle of LGMD2A patients.

, 2014
A) CAPN3 mRNA expression (RT-PCR); B) CAPN3 protein (Western blot); C) Ca2+-induced autolytic activity of CAPN3 (Western blot). Calpain-3 autolytic activity is presented as a ratio between autolyzed fragments and total CAPN3 (representing relative ...
Fatimah Alqarni (606588), Pavneet Dhaliwal (606591), Rahul Suri (606589), Mark A. Tarnopolsky (73446), Mats I. Nilsson (606586), Lauren G. Macneil (5659933), Munim Saeed (606592), Maria E. Haikalis (606590), Mahmood Akhtar (362736), Yu Kitaoka (606587)   +9 more
core   +1 more source

Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia

Journal of Biomedicine and Translational Research, 2017
Background: Limb girdle muscular dystrophy (LGMD) is a neuromuscular abnormality with clinical heterogeneity and various severity, where over 30 subtypes have been identified.
Nydia Rena Benita Sihombing, Nurin Aisyiyah Listyasari, Sultana MH Faradz   +2 more
doaj   +1 more source

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)

Biomolecules, 2015
Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the first enzyme of the hexosamine biosynthetic pathway. It transfers an amino group from glutamine to fructose-6-phosphate to yield glucosamine-6-phosphate, thus providing the precursor for ...
Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell   +6 more
doaj   +1 more source

Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.

PLoS ONE, 2010
BackgroundCalpain 3 (Capn3), also named p94, is a skeletal muscle tissue-specific protein known to be responsible for limb-girdle muscular dystrophy type 2A (LGMD2A).
Sante Roperto, Roberta De Tullio, Cinzia Raso, Roberto Stifanese, Valeria Russo, Marco Gaspari, Giuseppe Borzacchiello, Monica Averna, Orlando Paciello, Gianni Cuda, Franco Roperto   +10 more
doaj   +1 more source