Results 51 to 60 of about 2,350,820 (217)

Yenidoğan döneminde birleşik heterozigot Niemann-Pick tip C hastalığı

, 2021
Yenidoğan döneminde birleşik heterozigot Niemann-Pick Type C hastalığı Niemann-Pick Tip C hastalığı (NPC), esterifiye olmamış kolesterollerin lizozomlarda depolanması ile karekterize nörodejeneratif bir lizozomal depo hastalığıdır.
Deniz ANUK-İNCE, Özden TURAN, Zerrin YİLMAZ, Ayşe ECEVİT   +3 more
core   +2 more sources

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +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

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

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 Circular Processes Model of Cultural Taxation: The Lived Experiences of Māori Healthcare Employees

Kōtuitui: New Zealand Journal of Social Sciences Online, Volume 21, Issue 4, December 2026.
This study examines the cultural taxation experiences of Māori healthcare employees in Aotearoa. Cultural taxation, a form of implicit bias, refers to the burdens imposed on minority employees to engage in cultural responsibilities without receiving recognition or consideration in promotions (Padilla 1994).
Stefan Stracke‐Reeves, Jennifer Hoi Ki Wong, Tyron Love   +2 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

Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems

, 2023
A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder.
Dua, K, Lawson, J, Pondugula, S, Pathak, S, Harrell, E, Deruiter, J, Dhanasekaran, M   +6 more
core   +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

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, Volume 13, Issue 57, 14 October 2026.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source