Results 61 to 70 of about 156,351 (339)
Genetics in Medicine, 2018 PurposeWe conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann–Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.MethodsAt five participating ...
Melissa P. Wasserstein +15 more
semanticscholar +1 more source
Relationship of Lysosomal Storage Diseases (LSD) with Autophagy
Van Tıp Dergisi, 2022 Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal
Seda Keskin +2 more
doaj +1 more source
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis [PDF]
, 2017 Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL). The current understanding of CSPα function exclusively at the synapse fails to explain the autophagy-lysosome pathway (ALP ...
Benitez, Bruno A, Sands, Mark S
core +2 more sources
Orphan drugs and the NHS: Should we value rarity [PDF]
, 2005 Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core +2 more sources
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases
Cell Death and Disease, 2018 Lysosomal storage diseases (LSDs) comprise a large group of disorders of catabolism, mostly due to deficiency of a single glycan-cleaving hydrolase. The consequent endo-lysosomal accumulation of undigested or partially digested substrates in cells of ...
Ida Annunziata, R. Sano, A. d’Azzo
semanticscholar +1 more source
Lysosomes, Lysosomal Storage Diseases, and Inflammation
Journal of Inborn Errors of Metabolism and Screening, 2016 Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease.
Calogera M. Simonaro PhD
doaj +1 more source
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]
, 2019 IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut +30 more
core +2 more sources
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism
Movement Disorders, 2019 Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal‐recessive or X‐linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates.
Daniel Ysselstein, J. Shulman, D. Krainc
semanticscholar +1 more source
Structural biology of ferritin nanocages
FEBS Letters, EarlyView.Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley +1 more source
Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region
مجلة الكوفة الطبيةBackground and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj +1 more source