Results 41 to 50 of about 2,699,597 (146)
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]
, 2022 In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
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HemaSphere, Volume 10, Issue 9, September 2026.Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis +2 more
wiley +1 more source
, 2015 Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes.
Falco M +7 more
core +1 more source
Journal of Animal Breeding and Genetics, Volume 143, Issue 5, Page 625-638, September 2026.ABSTRACT Sheep production contributes to a secure and diverse food and fibre supply in the United States, with growing ethnic diversity strengthening demand. Katahdin is a composite hair‐type sheep breed developed in the United States that has become the most popular breed in many regions of the country and the first one to have genomic selection ...
Alejandra Toro Ospina +6 more
wiley +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 13, July 2026.ABSTRACT Osteoarthritis (OA) is a debilitating degenerative joint disease characterized by progressive articular cartilage destruction, persistent inflammation, and functional impairment. Circular RNAs (CireRNAs) have emerged as critical epigenetic regulators in OA pathogenesis; however, the precise functional role of Circ_0003423 in OA remains largely
Lei Zhang +5 more
wiley +1 more source
Bioenhancer‐Driven Modulation of Membrane Dynamics Improves B‐Vitamin Uptake in Caco‐2 Cells
ChemFoodChem, Volume 2, Issue 2, June 2026.Natural bioenhancers such as extracts from ginger, turmeric, black pepper, and spearmint increase the uptake of vitamins B1, B5, B6, and B7 in Caco‐2 cells. Micellized formulations further increase efficacy. These findings indicate that altered membrane fluidity contributes to enhanced cellular absorption, providing a new route to improve vitamin B ...
Verena Preinfalk +9 more
wiley +1 more source
Cell Proliferation, Volume 59, Issue 3, March 2026.PIK‐III enhancing the efficacy of cuproptosis to kill renal cancer cells through dysregulating thiamine metabolism and dephosphorylation of pyruvate dehydrogenase complex E1 (PDHA1), providing a potential option for treatment of cuproptosis‐resistant renal cancer by the combination of PIK‐III and elesclomol.
Dongdong Xie +8 more
wiley +1 more source
Advanced Science, Volume 13, Issue 7, 3 February 2026.Glutamine deprivation triggers ACSL5 upregulation in tumor cells, sustaining their viability via dual metabolic rewiring programs. ACSL5 enhances glycolysis by relieving p53's inhibition of PGAM1 while also sustaining mitochondrial respiration and TCA cycle flux through promoting IDH2 dimerization.
Shuai Tian +11 more
wiley +1 more source