Dystrophin: more than just the sum of its parts
E Le Rumeur, SJ Winder, JF Hubert - Biochimica et Biophysica Acta (BBA) …, 2010 - Elsevier
Dystrophin is one of a number of large cytoskeleton associated proteins that connect
between various cytoskeletal elements and often are tethered to the membrane through …
between various cytoskeletal elements and often are tethered to the membrane through …
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …
Becker muscular dystrophy severity is linked to the structure of dystrophin
A Nicolas, C Raguénès-Nicol… - Human molecular …, 2015 - academic.oup.com
In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce
internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder …
internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder …
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-β aggregates
SM Singh, N Kongari… - Proceedings of the …, 2010 - National Acad Sciences
A deficiency of functional dystrophin protein in muscle cells causes muscular dystrophy
(MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal …
(MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal …
Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation
Abstract Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by
mutations in the cytoskeletal protein β-III-spectrin. Previously, a SCA5 mutation resulting in a …
mutations in the cytoskeletal protein β-III-spectrin. Previously, a SCA5 mutation resulting in a …
DMD-associated dilated cardiomyopathy: genotypes, phenotypes, and phenocopies
R Johnson, R Otway, E Chin, C Horvat… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin,
cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart …
cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart …
Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation
DM Henderson, A Lee… - Proceedings of the …, 2010 - National Acad Sciences
Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) most
commonly through loss of protein expression. In a small subpopulation of patients, missense …
commonly through loss of protein expression. In a small subpopulation of patients, missense …
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad
phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual …
phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual …
β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization
A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of
β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. Here …
β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. Here …
The 8th and 9th tandem spectrin-like repeats of utrophin cooperatively form a functional unit to interact with polarity-regulating kinase PAR-1b
K Yamashita, A Suzuki, Y Satoh, M Ide, Y Amano… - Biochemical and …, 2010 - Elsevier
Utrophin is a widely expressed paralogue of dystrophin, the protein responsible for
Duchenne muscular dystrophy. Utrophin is a large spectrin-like protein whose C-terminal …
Duchenne muscular dystrophy. Utrophin is a large spectrin-like protein whose C-terminal …