Results 221 to 230 of about 3,523,765 (264)

Human biomarker navigator

open access: yesiMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li   +29 more
wiley   +1 more source

ATP Citrate Lyase in Metabolic Disease: Mechanistic Insights and Clinical Potential

open access: yesiNew Medicine, EarlyView.
ATP citrate lyase (ACLY) is a central metabolic hub that diverts mitochondrial citrate to fuel de novo lipogenesis, cholesterol biosynthesis, and protein acetylation. Given its robust correlation with pathological changes in multiple human diseases, ACLY inhibitors featuring distinct pharmacological strengths have been developed for therapeutic ...
Wenbiao Wang   +5 more
wiley   +1 more source

FAM107A loss facilitates TTK‐OPTN‐mediated mitophagy to drive docetaxel resistance in castration‐resistant prostate cancer

open access: yesInterdisciplinary Medicine, EarlyView.
In the progression of docetaxel resistance, downregulation of FAM107A releases its transcriptional repression of TTK, leading to TTK upregulation. TTK enhances the interaction and phosphorylation of OPTN. This activates mitophagy in tumor cells, facilitates clearance of damaged mitochondria, reduces intracellular reactive oxygen species accumulation ...
Yishan Zhang   +11 more
wiley   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang   +3 more
wiley   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

open access: yesInterdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao   +10 more
wiley   +1 more source

Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors

open access: yes, 2002
DI DOMENICO C.   +4 more
core   +1 more source

Storage problems in lysosomal diseases

open access: yesBiochemical Society Transactions, 2010
Biochemical disorders in lysosomal storage diseases consist of the interruption of metabolic pathways involved in the recycling of the degradation products of one or several types of macromolecules. The progressive accumulation of these primary storage products is the direct consequence of the genetic defect and represents the initial pathogenic event.
Jean Michel, Heard   +5 more
openaire   +3 more sources

Lysosomal Storage Diseases

open access: yes, 2012
Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem.
Pinar T. Ozand, Mohammed Al-Essa
core   +4 more sources

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

open access: yesCell Calcium, 2011
Disrupted cellular Ca(2+) signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a group of ∼50 diseases caused predominantly by mutations in lysosomal proteins that result in accumulation ...
Frances M Platt, Emyr Lloyd-Evans
exaly   +2 more sources

Lysosomal storage diseases

The Biomedical & Life Sciences Collection
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina   +2 more
  +6 more sources

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