Duchenne muscular dystrophy

D Duan, N Goemans, S Takeda, E Mercuri… - Nature Reviews …, 2021 - nature.com
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads
to difficulties with movement and, eventually, to the need for assisted ventilation and …

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

F Muntoni, S Torelli, A Ferlini - The Lancet Neurology, 2003 - thelancet.com
A large and complex gene on the X chromosome encodes dystrophin. Many mutations have
been described in this gene, most of which affect the expression of the muscle isoform, the …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

N Doorenweerd, A Mahfouz, M van Putten… - Scientific reports, 2017 - nature.com
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of
learning and behavioural problems and is associated with neurodevelopmental disorders …

Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy

M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

[HTML][HTML] The structural and functional diversity of dystrophin

AH Ahn, LM Kunkel - Nature genetics, 1993 - nature.com
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene.
Expression of this large X-linked gene is under elaborate transcriptional and splicing control …

[HTML][HTML] Structural and functional aspects of filamins

A van der Flier, A Sonnenberg - … Et Biophysica Acta (BBA)-Molecular Cell …, 2001 - Elsevier
Filamins are a family of high molecular mass cytoskeletal proteins that organize filamentous
actin in networks and stress fibers. Over the past few years it has become clear that filamins …

The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced

CN Tennyson, HJ Klamut, RG Worton - Nature genetics, 1995 - nature.com
The largest known gene is the human dystrophin gene, which has 79 exons spanning at
least 2,300 kilobases (kb). Transcript accumulation was monitored from four regions of the …

Human dysbindin (dtnbp1) gene expression innormal brain and in schizophrenic prefrontal cortex and midbrain

CS Weickert, RE Straub, BW McClintock… - Archives of general …, 2004 - jamanetwork.com
Context The schizophrenia-susceptibility gene dysbindin (DTNBP1on 6p22. 3) encodes a
neuronal protein that binds to β-dystrobrevin and may be part of the dystrophin protein …

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides

SD Wilton, F Lloyd, K Carville, S Fletcher… - Neuromuscular …, 1999 - Elsevier
The mdx mouse, which carries a nonsense mutation in exon 23 of the dystrophin gene, has
been used as an animal model of Duchenne muscular dystrophy to evaluate cell or gene …