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 …

Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene

R Tadayoni, A Rendon, LE Soria-Jasso… - Molecular …, 2012 - Springer
Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …

Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB

MB Coelho, J Attig, N Bellora, J König… - The EMBO …, 2015 - embopress.org
Matrin3 is an RNA‐and DNA‐binding nuclear matrix protein found to be associated with
neural and muscular degenerative diseases. A number of possible functions of Matrin3 have …

Cognitive impairment in neuromuscular disorders

MG D'Angelo, N Bresolin - Muscle & Nerve: Official Journal of …, 2006 - Wiley Online Library
Several studies have suggested the presence of central nervous system involvement
manifesting as cognitive impairment in diseases traditionally confined to the peripheral …

Dystrophin Dp71 isoforms are differentially expressed in the mouse brain and retina: report of new alternative splicing and a novel nomenclature for Dp71 isoforms

J Aragón, M González-Reyes, J Romo-Yáñez… - Molecular …, 2018 - Springer
Multiple dystrophin Dp71 isoforms have been identified in rats, mice, and humans and in
several cell line models. These Dp71 isoforms are produced by the alternative splicing of …

Characterization of a novel Dp71 dystrophin-associated protein complex (DAPC) present in the nucleus of HeLa cells: members of the nuclear DAPC associate with …

L Fuentes-Mera, R Rodríguez-Muñoz… - Experimental cell …, 2006 - Elsevier
Dystrophin is an essential component in the assembly and maintenance of the dystrophin-
associated protein complex (DAPC), which includes members of the dystroglycan …

FOXP3 ensembles in T‐cell regulation

B Li, A Samanta, X Song, K Furuuchi… - Immunological …, 2006 - Wiley Online Library
Our recent studies have identified dynamic protein ensembles containing forkhead box
protein 3 (FOXP3) that provide insight into the molecular complexity of suppressor T‐cell …

Detection of dystrophin Dp71 in human skeletal muscle using an automated capillary western assay system

T Kawaguchi, ETE Niba, AQM Rani, Y Onishi… - International journal of …, 2018 - mdpi.com
Background: Dystrophin Dp71 is one of the isoforms produced by the DMD gene which is
mutated in patients with Duchenne muscular dystrophy (DMD). Although Dp71 is expressed …

Actin binding to WH2 domains regulates nuclear import of the multifunctional actin regulator JMY

JB Zuchero, B Belin, RD Mullins - Molecular biology of the cell, 2012 - Am Soc Cell Biol
Junction-mediating and regulator y protein (JMY) is a regulator of both transcription and
actin filament assembly. In response to DNA damage, JMY accumulates in the nucleus and …

CRISPR-Cas9 correction in the DMD mouse model is accompanied by upregulation of Dp71f protein

TV Egorova, AV Polikarpova, SG Vassilieva… - … Therapy-Methods & …, 2023 - cell.com
Duchenne muscular dystrophy (DMD) is a severe hereditary disease caused by a deficiency
in the dystrophin protein. The most frequent types of disease-causing mutations in the DMD …