Results 121 to 130 of about 51,266 (290)
Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Marta Przymuszała +3 more
wiley +1 more source
The gene encoding human spectrin Src homology domain binding protein 1, or Hssh3bpl, which is a marker of macropinocytic vesicles and a potential regulator of macropinocytosis, co-localizes to a YAC containing chromosome 10p sequences at loci D10S89 and ...
Jill A. Macoska +5 more
doaj +1 more source
Assembly of Protein 4.1 during Chicken Erythroid Differentiation [PDF]
Protein 4.1 is a peripheral membrane protein that strengthens the actin-spectrin based membrane skeleton of the red blood cell and also serves to attach this structure to the plasma membrane. In avian erythrocytes it exists as a family of closely related
Lazarides, Elias, Staufenbiel, Matthias
core +1 more source
A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding
Spinocerebellar ataxia type 5 (SCA5) is a human neurodegenerative disease that stems from mutations in the SPTBN2 gene encoding the protein β-III-spectrin. Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P
Adam W. Avery +3 more
semanticscholar +1 more source
Crossed Erythrocytes Agglutination Pattern Observed in a Patient With Hereditary Elliptocytosis
International Journal of Laboratory Hematology, EarlyView.
Márcio A. W. Melo +3 more
wiley +1 more source
ABSTRACT Background Microscopic colitis (MC), comprising lymphocytic colitis (LC) and collagenous colitis (CC), is an inflammatory bowel disease with increasing incidence. MC etiopathogenesis remains unknown; however, altered colonic epithelial integrity may underlie uncontrolled luminal antigen passage, triggering immuno‐inflammatory responses ...
Danila Guagnozzi +18 more
wiley +1 more source
Two‐Pore K+ Channel TREK‐1 Regulates Sinoatrial Node Membrane Excitability
BackgroundTwo‐pore K+ channels have emerged as potential targets to selectively regulate cardiac cell membrane excitability; however, lack of specific inhibitors and relevant animal models has impeded the effort to understand the role of 2‐pore K ...
Sathya D. Unudurthi +13 more
doaj +1 more source
Interaction of rat liver lysosomal membranes with actin. [PDF]
Membranes were prepared from lysosomes purified 80-fold by centrifugation in a discontinuous metrizamide gradient. When salt-washed membranes were combined with rabbit muscle actin, an increase in viscosity could be measured using a falling ball ...
Bame, KJ, Mehrabian, M, Rome, LH
core
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B +10 more
core +1 more source
The spectrin cytoskeleton crosslinks actin to the membrane, and although it has been greatly studied in erythrocytes, much is unknown about its function in epithelia.
Bing Fu Ng +6 more
semanticscholar +1 more source

