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 …

[HTML][HTML] Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy

MTS Barboni, A Joachimsthaler, MJ Roux… - Progress in Retinal and …, 2023 - Elsevier
Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene
mutations predominantly affecting males who develop early-onset muscle degeneration …

Interleukin-6 (IL-6) and/or soluble IL-6 receptor down-regulation of human type II collagen gene expression in articular chondrocytes requires a decrease of Sp1· Sp3 …

B Porée, M Kypriotou, C Chadjichristos… - Journal of Biological …, 2008 - ASBMB
Type II collagen is composed of α1 (II) chains encoded by the COL2A1 gene. Alteration of
this cartilage marker is a common feature of osteoarthritis. Interleukin-6 (IL-6) is a pro …

Genotype–phenotype correlations in Duchenne and Becker muscular dystrophy patients from the Canadian neuromuscular disease registry

KRQ Lim, Q Nguyen, T Yokota - Journal of Personalized Medicine, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by
out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to …

[HTML][HTML] TGFβ1 regulation of vimentin gene expression during differentiation of the C2C12 skeletal myogenic cell line requires Smads, AP-1 and Sp1 family members

Y Wu, X Zhang, M Salmon, X Lin, ZE Zehner - Biochimica et Biophysica …, 2007 - Elsevier
Vimentin exhibits a complex pattern of developmental and tissue-specific expression
regulated by such growth factors as TGFβ1, PDGF, FGF, EGF and cytokines. Vimentin is …

Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy

BL Wong, S Summer, PS Horn… - Journal of Cachexia …, 2023 - Wiley Online Library
Introduction Mutations in the 79 exons of the dystrophin gene result in muscle wasting and
weakness of varying clinical severity, ranging from severe/typical Duchenne muscular …

Differential intranuclear organization of transcription factors Sp1 and Sp3

S He, JM Sun, L Li, JR Davie - Molecular biology of the cell, 2005 - Am Soc Cell Biol
Sp1 and Sp3 are ubiquitously expressed mammalian transcription factors that activate or
repress the expression of a variety of genes and are thought to compete for the same DNA …

Nuclear and nuclear envelope localization of dystrophin Dp71 and dystrophin‐associated proteins (DAPs) in the C2C12 muscle cells: DAPs nuclear localization is …

R González‐Ramírez… - Journal of cellular …, 2008 - Wiley Online Library
Dystrophin and dystrophin‐associated proteins (DAPs) form a complex around the
sarcolemma, which gives stability to the sarcolemma and leads signal transduction …

[HTML][HTML] The skeletal muscle phenotype of the DE50-MD dog model of Duchenne muscular dystrophy

JCW Hildyard, DO Riddell, RCM Harron… - Wellcome Open …, 2022 - ncbi.nlm.nih.gov
Background: Animal models of Duchenne muscular dystrophy (DMD) are essential to study
disease progression and assess efficacy of therapeutic intervention, however dystrophic …

[HTML][HTML] Mice lacking dystrophin or α sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively …

K Fernandez, Y Serinagaoglu, S Hammond… - The American journal of …, 2010 - Elsevier
Altered expression of proteins in the dystrophin-associated glycoprotein complex results in
muscular dystrophy and has more recently been implicated in a number of forms of cancer …