Results 31 to 40 of about 3,944 (168)

Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics

Frontiers in Molecular Neuroscience, 2020
Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating neuromuscular disease caused by mutations in the LAMA2 gene. These mutations result in the complete absence or truncated expression of the laminin-α2 chain.
Pamela Barraza-Flores, Christina R. Bates, Ariany Oliveira-Santos, Dean J. Burkin   +3 more
doaj   +1 more source

Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD

Skeletal Muscle, 2020
Background Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating genetic disease caused by mutations in the LAMA2 gene. These mutations result in progressive muscle wasting and inflammation leading to delayed milestones, and ...
Pamela Barraza-Flores, Hailey J. Hermann, Christina R. Bates, Tyler G. Allen, Timothy T. Grunert, Dean J. Burkin   +5 more
doaj   +1 more source

A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review

Frontiers in Medicine, 2022
BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disorder that predominantly affects the right ventricle.
Yue Wang, Yibing Fang, Dan Zhang, Yifei Li, Shuhua Luo   +4 more
doaj   +1 more source

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Frontiers in Genetics, 2023
Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter ...
Natalia Diaz-Lombana, Lorena Diaz-Ordoñez, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Juan David Gutierrez-Medina, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa   +7 more
doaj   +1 more source

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

Frontiers in Pediatrics, 2023
IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 ...
Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong   +6 more
doaj   +1 more source

Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes [PDF]

Frontiers in Molecular Neuroscience, 2019
An understanding of basement membrane (BM) assembly at a molecular level provides a foundation with which to develop repair strategies for diseases with defects of BM structure. As currently understood, laminins become anchored to cell surfaces through receptor-mediated interactions and polymerize.
Yurchenco, Peter D., McKee, Karen K.
openaire   +3 more sources

Bcl-2 inhibits the innate immune response during early pathogenesis of murine congenital muscular dystrophy. [PDF]

PLoS ONE, 2011
Laminin α2 (LAMA2)-deficient congenital muscular dystrophy is a severe, early-onset disease caused by abnormal levels of laminin 211 in the basal lamina leading to muscle weakness, transient inflammation, muscle degeneration and impaired mobility.
Sheila Jeudy, Katherine E Wardrop, Amy Alessi, Janice A Dominov   +3 more
doaj   +1 more source

Child Neurology: LAMA2 muscular dystrophy without contractures [PDF]

Neurology, 2017
The limb-girdle muscular dystrophies (LGMD) comprise a large group of genetic disorders that lead to shoulder and pelvic girdle muscle weakness. Although these disorders are grouped together based on phenotypic presentation, there is extensive genetic variability among them.
Marissa, Dean, Salman, Rashid, William, Kupsky, Steven A, Moore, Huiyuan, Jiang   +4 more
openaire   +2 more sources

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models

Frontiers in Molecular Neuroscience, 2020
Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality—aberrant white matter signals by MRI—when first described in the 1990s.
Andrea J. Arreguin, Andrea J. Arreguin, Holly Colognato   +2 more
doaj   +1 more source

A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD

Frontiers in Molecular Neuroscience, 2020
The research on laminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD) advanced rapidly in the last few decades, largely due to availability of good mouse models for the disease and a strong interest in preclinical studies from scientists ...
Kinga I. Gawlik, Madeleine Durbeej
doaj   +1 more source