Results 11 to 20 of about 32,246 (220)

Current knowledge of dystrophin and dystrophin-associated proteins in the retina [PDF]

Histology and histopathology, 2000
Dramatical development of molecular genetics has been disclosing the molecular mechanism of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (RMD).
Ohno, S., Baba, T., Ueda, H.
core   +4 more sources

Myonuclear Domain‐Associated and Central Nucleation‐Dependent Spatial Restriction of Dystrophin Protein Expression [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background The restoration of uniformly distributed dystrophin protein expression is an important consideration for the development of advanced therapeutics for Duchenne muscular dystrophy (DMD).
Katarzyna Chwalenia, Vivi‐Yun Feng, Nicole Hemmer, John C. W. Hildyard, Liberty E. Roskrow, Richard J. Piercy, Eric T. Wang, Annemieke Aartsma‐Rus, Maaike vanPutten, Matthew J. A. Wood, Thomas C. Roberts   +10 more
doaj   +2 more sources

Function and genetics of dystrophin and dystrophin-related proteins in muscle. [PDF]

Physiological Reviews, 2002
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; however, the complex molecular pathology of this disorder is now being ...
Blake, DJ, Davies, Kay E., Weir, A, Davies, Kay, Newey, Sarah, Newey, Sarah E., Blake, Derek J., Weir, Andrew   +7 more
core   +3 more sources

Dystrophin and related proteins

Current Opinion in Genetics & Development, 1993
During the past year significant progress has been made in understanding how dystrophin deficiency leads to muscle cell necrosis in Duchenne muscular dystrophy and Becker muscular dystrophy.
Knight, Alex E., Davies, Kay E., Kendrick-Jones, John, Tinsley, Jonathon M., Pearce, Marcela, Blake, Derek J.   +5 more
core   +3 more sources

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey

European Journal of Histochemistry, 2009
Since all organs (i.e. skeletal, cardiac, smooth muscles and sciatic nerve) are never only taken from a single patient, all these tissues were obtained from one cynomolgus monkey, a model closely resembling humans.
V Guerlavais, G Hugon, F Rivier, R Paniagua, JA Fehrentz, D Mornet, D Chazalette, J Martinez, M Royuela   +8 more
core   +5 more sources

Dystrophin involvement in peripheral circadian SRF signalling [PDF]

Life Science Alliance, 2021
Absence of integral sarcolemmal protein, dystrophin, disrupts the RhoA-actin-SRF cascade in skeletal muscle, with subsequent dysregulation of downstream-SRF circadian targets and circadian rhythm.
Corinne A Betts, Aarti Jagannath, Tirsa LE van Westering, Melissa Bowerman, Subhashis Banerjee, Jinhong Meng, Maria Sofia Falzarano, Lara Cravo, Graham McClorey, Katharina E Meijboom, Amarjit Bhomra, Wooi Fang Lim, Carlo Rinaldi, John R Counsell, Katarzyna Chwalenia, Elizabeth O’Donovan, Amer F Saleh, Michael J Gait, Jennifer E Morgan, Alessandra Ferlini, Russell G Foster, Matthew JA Wood   +21 more
doaj   +4 more sources

Aquaporin-4 Orchestrates Muscle Cell Differentiation and Satellite Cell Preservation: A Novel Target in Age-Related Muscle Decline. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Impaired muscle regeneration is a key contributor to age‐related muscle decline, yet the molecular mechanisms linking muscle water homeostasis to regenerative failure remain incompletely understood. Aquaporin‐4 (AQP4), a major skeletal muscle water channel, may have functions beyond water transport that are relevant to muscle ...
Girón MD, Manzano M, Pereira SL, Reinoso A, Burgio C, Montero-Martin N, Jiménez-Jiménez G, Argilés JM, Rueda R, López-Pedrosa JM, Salto R.   +10 more
europepmc   +2 more sources

Full-length human dystrophin on human artificial chromosome compensates for mouse dystrophin deficiency in a Duchenne muscular dystrophy mouse model

Scientific Reports, 2023
Dystrophin maintains membrane integrity as a sarcolemmal protein. Dystrophin mutations lead to Duchenne muscular dystrophy, an X-linked recessive disorder.
Yosuke Hiramuki, Satoshi Abe, Narumi Uno, Kanako Kazuki, Shuta Takata, Hitomaru Miyamoto, Haruka Takayama, Kayoko Morimoto, Shoko Takehara, Mitsuhiko Osaki, Jun Tanihata, Shin’ichi Takeda, Kazuma Tomizuka, Mitsuo Oshimura, Yasuhiro Kazuki   +14 more
doaj   +1 more source

Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin [PDF]

Journal of Muscle Research and Cell Motility, 2013
Heart disease is a leading cause of death in patients with Duchenne muscular dystrophy (DMD). Patients with DMD lack the protein dystrophin, which is widely expressed in striated muscle. In skeletal muscle, the loss of dystrophin results in dramatically decreased expression of the dystrophin associated glycoprotein complex (DGC).
Katharine M, Sharpe, Monica D, Premsukh, DeWayne, Townsend   +2 more
openaire   +2 more sources

The effects of low levels of dystrophin on mouse muscle function and pathology. [PDF]

PLoS ONE, 2012
Duchenne muscular dystrophy (DMD) is a severe progressive muscular disorder caused by reading frame disrupting mutations in the DMD gene, preventing the synthesis of functional dystrophin. As dystrophin provides muscle fiber stability during contractions,
Maaike van Putten, Margriet Hulsker, Vishna Devi Nadarajah, Sandra H van Heiningen, Ella van Huizen, Maarten van Iterson, Peter Admiraal, Tobias Messemaker, Johan T den Dunnen, Peter A C 't Hoen, Annemieke Aartsma-Rus   +10 more
doaj   +1 more source