Results 41 to 50 of about 12,631 (179)

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Therapeutic potential of okra (Abelmoschus esculentus) in dysglycaemia and metabolic dysfunction: A systematic review and meta‐analysis across the diabetes spectrum

Experimental Physiology, EarlyView.
Abstract The aim of this systematic review and meta‐analysis was to evaluate comprehensively the therapeutic potential of Abelmoschus esculentus (okra) supplementation across the diabetes spectrum of key metabolic risk factors. A search was conducted in PubMed, Scopus, Web of Science, EMBASE and the Cochrane Library, up to 23 July 2025, to identify ...
Ali Jafari, Helia Mardani, Mohammad Amin Karimi, MohammadHossein Sahami Gilan, Helia Hemmat, Fatemeh Shoja, Nooshin Enayati Soofi, Ghazaleh Eslamian   +7 more
wiley   +1 more source

Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy

Педиатрическая фармакология
Background. Niemann–Pick disease type C is a multisystem orphan disease caused by mutations in the NPC1 and NPC2 genes and characterized by clinical polymorphism. The difficulties of managing such patients lie in the diagnosis and differential diagnostic
Nailya R. Mingacheva, Aelita A. Kamalova, Nargis A. Artykova, Razilya F. Rakhmaeva, Gulnara I. Sageeva   +4 more
doaj   +1 more source

microRNAs: A connection between cholesterol metabolism and neurodegeneration

Neurobiology of Disease, 2014
Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann–Pick type C disease, Smith–Lemli–Opitz syndrome, Hungtington's disease and Parkinson's disease ...
Leigh Goedeke, Carlos Fernández-Hernando   +1 more
doaj   +1 more source

Mapping the Young‐Onset Dementia Research in the Asia‐Pacific Region: A Scoping Review

Asia-Pacific Psychiatry, Volume 18, Issue 3, September 2026.
ABSTRACT Young‐onset dementia (YOD), with symptom onset before 65, is an area of increasing public health importance. YOD research in Asia‐Pacific remains under‐represented in the global YOD research landscape. This scoping review aimed to comprehensively map the existing YOD literature from Asia‐Pacific and provide an overview of the research topics ...
Gia Tan, Gary Cheung, Samantha M. Loi, Etuini Ma'u, Campbell Le Heron, Monica Cations, Nick Garrett, Megan Eustace, So Young Moon, Eun‐Joo Kim, Kok Pin Ng, Adeline S. L. Ng, Huali Wang, Isabelle Burke, Kenny Ong, Brigid Ryan   +15 more
wiley   +1 more source

Medications That Regulate Pregnane X Receptor: A Systematic Review of Current Evidence

Pharmacology Research &Perspectives, Volume 14, Issue 4, August 2026.
PRISMA 2020 flow diagram of study selection for this systematic review of medications that regulate the pregnane X receptor (PXR), from 12 236 records screened to 101 included studies. ABSTRACT The pregnane X receptor (PXR) gene encodes a ligand‐activated protein involved with the metabolism and excretion of drugs, toxins, and other xenobiotics.
Petra Czarniak, Rachael Moorin, Jeff Hughes, Karl Gruber, David Youens   +4 more
wiley   +1 more source

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors

Antioxidants
Lysosomal storage diseases (LSDs) are characterized by the accumulation of undegraded substrates within lysosomes, often associated with oxidative stress and impaired lysosomal function. In this study, we investigate the role of the c-Abl/TFEB pathway in
Miguel V. Guerra, Juan Castro, Antonio Moreno, Elisa Balboa, Juan J. Marugan, Alejandra R. Alvarez, Silvana Zanlungo   +6 more
doaj   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, Volume 600, Issue 13, Page 1829-1841, July 2026.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source

Intestinal Source Control of Lipid Metabolism by Enzyme‐Probiotic Encapsulated, Spatiotemporal Crosslinked, and Small Intestine‐Adhesive Hydrogel Microspheres

Advanced Science, Volume 13, Issue 39, 13 July 2026.
A thiol‐modified alginate hydrogel microsphere‐encapsulated enzyme‐probiotic biohybrid (AKK‐COD) system has been developed to address the spatiotemporal delivery and colonization challenges of small intestine‐targeted probiotic for lipid metabolism regulation. The system exerts sequential functions of intragastric protection, small intestinal adhesion,
Xiaolin Wu, Weiwen Liang, Siqi He, Guangyuan Chen, Hui Zhou, Xinglong Wang, Yifei Li, Dingcai Wu, Bingna Zheng, Ruoxu Dou, Rongkang Huang   +10 more
wiley   +1 more source

Schizophrenic Phenotype and Therapeutic Course Associated With Chromosome 22q11.2 Deletion in a Cohort Without Prior Diagnosis of Chromosome 22q11.2 Deletion Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 331-337, July 2026.
ABSTRACT Chromosome 22q11.2 deletion is the greatest single genetic factor predisposing to schizophrenia. The prevalence of schizophrenia reported ranges from 2% to 30% in patients with chromosome 22q11.2 deletion syndrome with a still discussed phenotype.
Micha Gawlik, Paul Schneider, Bruno Pfuhlmann, Jürgen Deckert   +3 more
wiley   +1 more source