Results 71 to 80 of about 89,224 (302)
Heat Shock Protein 90: From Molecular Chaperone Function to Therapeutic Targeting in Malignancies
Advanced Science, EarlyView.In this review, an integrated conceptual framework linking HSP90's molecular chaperone functions to its pathological roles in cancer is proposed. HSP90 serves as a central node that integrates oncogenic signaling, buffers proteotoxic stress, maintains cancer stem cell plasticity, and shapes tumor‐immune interactions, all of which converge to drive ...
Beibei Zhang +4 more
wiley +1 more source
A case report of Paracetamol related pyroglutamic acidosis: mind the gap in a malnourished patient
BMC NephrologyBackground Pyroglutamic acidosis is a rare cause of high anion gap metabolic acidosis. Most cases of paracetamol related pyroglutamic acidosis are described in malnourished women and patients with kidney/liver failure, alcohol use or severe sepsis.
Rita Eid +5 more
doaj +1 more source
Abstract #1579284: Low Carbohydrate Intake Correlates With Trends of Insulin Resistance and Metabolic Acidosis in Healthy Lean Individuals [PDF]
, 2023 Fatema Al‐Rashed +8 more
openalex +1 more source
Advanced Science, EarlyView.A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li +14 more
wiley +1 more source
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Metabolic acidosis in hemodialysis patients: a review
Brazilian Journal of NephrologyMetabolic acidosis is highly prevalent in hemodialysis patients. The disorder is associated with increased mortality and its deleterious effects are already present in the predialysis phase of chronic kidney disease. Metabolic acidosis has been linked to
Luiza Raksa Rezende +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease [PDF]
, 2020 WMSN Gunaratne +4 more
openalex +1 more source