Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

M Chesshyre, D Ridout, Y Hashimoto… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …

Expression of the dystrophin gene in mouse and rat brain

D Gorecki, Y Geng, K Thomas, SP Hunt, EA Barnard… - …, 1991 - journals.lww.com
DUCHENNE muscular dystrophy is due to mutations in the dystrophin gene which is
predominantly expressed in muscle and brain. Since the disease is associated with …

Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of duchenne muscular dystrophy

SA Tokarz, NM Duncan, SM Rash, A Sadeghi… - Molecular genetics and …, 1998 - Elsevier
Duchenne muscular dystrophy (DMD) is caused by a defect in a 427-kDa membrane-
associated protein: dystrophin. The DMD gene also encodes several shorter isoforms which …

Low-level dystrophin expression attenuating the dystrophinopathy phenotype

MA Waldrop, F Gumienny, S El Husayni… - Neuromuscular …, 2018 - Elsevier
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from
DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular …

Duchenne muscular dystrophy from brain to muscle: the role of brain dystrophin isoforms in motor functions

N Wijekoon, L Gonawala, P Ratnayake… - Journal of Clinical …, 2023 - mdpi.com
Brain function and its effect on motor performance in Duchenne muscular dystrophy (DMD)
is an emerging concept. The present study explored how cumulative dystrophin isoform loss …

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

TS Khurana, SC Watkins, P Chafey, J Chelly… - Neuromuscular …, 1991 - Elsevier
Abstract Dystrophin Related Protein is the recently identified protein product of a large
autosomal transcript, showing significant similarity to dystrophin at the carboxyl terminus …

[HTML][HTML] Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy-a narrative review

N Doorenweerd - Neuromuscular disorders, 2020 - Elsevier
Duchenne muscular dystrophy is a multifactorial disease including a cognitive phenotype. It
is caused by mutations in the X-chromosomal DMD gene from which dystrophin is …

Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers

CD Blasi, L Morandi, R Barresi, F Blasevich… - Acta …, 1996 - Springer
The absence of dystrophin in muscle fibers is associated with a major reduction in
dystrophin-associated proteins (DAPs) and disruption of the linkage between the …

Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy

TW Kim, K Wu, IB Black - Annals of neurology, 1995 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is characterized by a defect in dystrophin, a high
molecular weight protein that is located predominantly in muscle, but which has been …

Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients

AV Tkatchenko, G Piétu, N Cros, L Gannoun-Zaki… - Neuromuscular …, 2001 - Elsevier
Mutations in the dystrophin gene lead to dystrophin deficiency, which is the cause of
Duchenne muscular dystrophy (DMD). This important discovery more than 10 years ago …