Results 91 to 100 of about 218,393 (308)
Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases [PDF]
, 2010 Dystroglycan is a central component of the dystrophin-glycoprotein complex (DGC) that links extracellular matrix with cytoskeleton, expressed in a variety of fetal and adult tissues.
Kiichiro Matsumura +3 more
core +1 more source
Correction to: Newborn screening in mucopolysaccharidoses
Italian Journal of Pediatrics, 2019 The original article contains an unintended omission of a statement of competing interests. As such, the authors would like to declare the following complete statement of competing interests:
Maria Alice Donati +4 more
doaj +1 more source
FEBS Open Bio, EarlyView.The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer +7 more
wiley +1 more source
PKC Proteins and Muscular Dystrophy [PDF]
, 2018 Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal
Elena Masselli +16 more
core +1 more source
, 2023 Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor ...
Joonhong Park +2 more
core +1 more source
Newborn screening in mucopolysaccharidoses
Italian Journal of Pediatrics, 2018 Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome.
Maria Alice Donati +4 more
doaj +1 more source
FEBS Open Bio, EarlyView.Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero +5 more
wiley +1 more source
Disease taxonomy - monogenic muscular dystrophy [PDF]
British Medical Bulletin, 1999 The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities. These studies illustrate how genetics provides a rationale and objective basis for a new, refined nosology.
openaire +2 more sources
FEBS Open Bio, EarlyView.Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin +3 more
wiley +1 more source
Splicing therapeutics in SMN2 and APOB
, 2009 Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR +3 more
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