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 …

Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy.

T Kim, K Wu, J Xu, IB Black - Proceedings of the National …, 1992 - National Acad Sciences
Duchenne muscular dystrophy (DMD) is a common, lethal, chromosome X-linked inherited
disease. Moderate cognitive impairment is a feature of DMD, but the underlying mechanisms …

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 …

Dystrophin in central nervous system: a developmental, regional distribution and subcellular localization study

D Jung, F Pons, JJ Léger, D Aunis, A Rendon - Neuroscience letters, 1991 - Elsevier
Dystrophin, the protein encoded by the Duchenne muscular dystrophy gene has been
shown to be expressed in central nervous system. In the present study, polyclonal …

The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle?

DJ Blake, S Kröger - Trends in neurosciences, 2000 - cell.com
Several forms of inherited muscular dystrophy are associated with brain abnormalities and
cognitive impairment. One of the most common and severe of these diseases is Duchenne …

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 …

Dystrophin-like immunoreactivity in monkey and human brain areas involved in learning and motor functions

J Huard, PY Côté, A Parent, JP Bouchard… - Neuroscience …, 1992 - Elsevier
Two antidystrophin antibodies against different fragments of dystrophin were used to detect
this polypeptide in monkey and human brains. Dystrophin was revealed by …

The role of dystrophin in the central nervous system: a mini review.

M Sekiguchi - … : myopathies and cardiomyopathies: official journal of …, 2005 - europepmc.org
Dystrophin is a protein responsible for a severe muscle disease Duchenne muscular
dystrophy (DMD). This molecule, a huge 427 kDa protein, is also expressed in brain …

The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain

T Tozawa, K Itoh, T Yaoi, S Tando, M Umekage… - Molecular …, 2012 - Springer
Duchenne muscular dystrophy (DMD) causes cognitive impairment in one third of the
patients, although the underlying mechanisms remain to be elucidated. Recent studies …

The distribution of dystrophin in the murine central nervous system: an immunocytochemical study

HGW Lidov, TJ Byers, LM Kunkel - Neuroscience, 1993 - Elsevier
A mild non-progressive cognitive defect is a feature of the fatal X-linked disease, Duchenne
muscular dystrophy. Recent studies have identified the genetic defect and the resulting loss …