Results 51 to 60 of about 2,248,227 (207)

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

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

Efficacy and Safety of Oral Non‐Statin Lipid‐Lowering Therapies in Dyslipidaemia: A Systematic Review and Network Meta‐Analysis

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
A network meta‐analysis of 43 randomized trials showed that oral combination therapies, particularly obicetrapib plus ezetimibe and bempedoic acid plus ezetimibe, achieved the greatest LDL‐C reduction with reassuring safety profiles, supporting their use as effective oral alternatives for patients with dyslipidaemia. ABSTRACT Introduction Dyslipidaemia
Tamer Hodrob, Reem J. Saad, Aya Hamdy, Mariam Saleh Alheneedy, Ahmed Mohamed Shehata Abdelfattah Elsayed, Elsaghir Ghazy, Hazem Ayesh   +6 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Jornal Brasileiro de Pneumologia
Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics.
Heloisa Maria Pereira Freitas, Alexandre Dias Mançano, Rosana Souza Rodrigues, Bruno Hochhegger, Pedro Paulo Teixeira e Silva Torres, Dante Escuissato, Cesar Augusto Araujo Neto, Edson Marchiori   +7 more
doaj   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

Niemann-Pick type C fibroblasts are resistant against GalSph- and GlcSph-induced cell death.

, 2022
(A-C) Death of fibroblasts from healthy controls or patients with Niemann-Pick type C disease (NPC) treated with indicated concentrations of GalSph (A), GlcSph (B), or ebastine (C) for 48 hours was determined as in Fig 1A.
Kamilla Stahl-Meyer (14149669), Lya K. K. Holland (14149672), Kenji Maeda (167242), Mesut Bilgin (836642), Nikolaj Havnsøe Torp Petersen (14149678), Jonathan Stahl-Meyer (14149675), Marja Jäättelä (127022), Thomas Kirkegaard (267655)   +7 more
core   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 8; October 2022-March 2023

, 2023
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Fw, Pfrieger
core   +1 more source

Unique molecular signature in mucolipidosis type IV microglia

Journal of Neuroinflammation, 2019
Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux, Rebecca A. Drummond, Mason Fellmeth, Fatemeh Navid, Amanda L. Collar, James Iben, Ashok B. Kulkarni, James Pickel, Raphael Schiffmann, Christopher A. Wassif, Niamh X. Cawley, Michail S. Lionakis, Forbes D. Porter   +12 more
doaj   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source