Results 51 to 60 of about 2,885,518 (281)
EMBO Molecular Medicine, 2015 Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano +7 more
doaj +1 more source
Stop-codon read-through for patients affected by a lysosomal storage disorder
, 2006 Lysosomal storage disorders are a group of inherited diseases that can result in severe and progressive pathology due to a specific lysosomal dysfunction.
Muller, V., Hopwood, J., Brooks, D.
core +1 more source
Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches [PDF]
, 2021 Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations.
core +2 more sources
Treatment of lysosomal storage disorders
BMJ, 2003 Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta +2 more
openaire +3 more sources
Lysosomal Storage Diseases-Regulating Neurodegeneration
, 2015 Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material
Jay E. Brenman, Rob U. Onyenwoke
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Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]
, 2017 Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar +2 more
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FEBS Letters, EarlyView.Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley +1 more source
Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway. [PDF]
PLoS ONE, 2011 Niemann-Pick Type C (NPC) disease is a lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids in the endolysosomal system.
Sayali S Dixit +5 more
doaj +1 more source
, 2003 Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
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Molecular Oncology, EarlyView.Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso +5 more
wiley +1 more source