Results 61 to 70 of about 2,679,717 (208)

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Journal of Lipid Research, 2015
Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) and 7-ketocholesterol
Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Javier de las Heras, Marisa Girós, Maria J. Coll, Antonia Ribes   +8 more
doaj   +1 more source

Dyslipidaemia, Chronic Kidney Disease and Diabetes Mellitus: A Triple Threat to Cardiovascular Health

Diabetes, Obesity and Metabolism, Volume 28, Issue 12, Page 10961-10976, December 2026.
ABSTRACT Diabetes mellitus (DM) and chronic kidney disease (CKD) frequently coexist and together create a ‘triple threat’ with dyslipidaemia, enhancing the risk for cardiovascular morbidity and mortality. Diabetic kidney disease (DKD) leads to altered lipid metabolism through insulin resistance, inflammation and oxidative stress resulting in an ...
Ann S. Forrest, Priyanka Majety, Stéphanie B. Mayer, Om P. Ganda   +3 more
wiley   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 7; May 2022-September 2022

, 2022
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  

Defective iron homeostasis and haematological abnormalities in Niemann-Pick disease type C1

, 2022
An investigation of iron-related parameters and haematological parameters in a mouse model of Niemann-Pick disease type C1 and in Niemann-Pick disease type C1 ...
Stephan Siebel, Oscar C.W Chen, Stephanie Newman, Nicole Y. Farhat, Elena-Raluca Nicoli, Hal Drakesmith, Alaa Abdul-Sada, Andrew E. Armitage, George Seligmann, Forbes D. Porter, Alexandria Colaco, Mylvaganam Jeyakumar, David A. Smith, Frances M. Platt, Dawn Shepherd, Claire Smith, Nick Platt   +16 more
core   +1 more source

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

Frontiers in Neurology, 2019
Mitochondrial dysfunction has been recognized as a key player in neurodegenerative diseases, including Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease.
Sandra Torres, Sandra Torres, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +7 more
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, Volume 13, Issue 11, Page 2400-2405, November 2026.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

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

The Natural Product Corramycin Acts as a DNA Gyrase Poison and Overcomes Fluoroquinolone Resistance in Mycobacterium tuberculosis

Advanced Science, Volume 13, Issue 63, 12 November 2026.
Corramycin, a myxobacterial natural product antibiotic, exhibits potent bactericidal activity against multidrug‐resistant Mycobacterium tuberculosis. The compound hijacks bacterial transporters such as BacA and OppABCD to enter the cell and inhibits DNA synthesis through a previously unrecognized mode of DNA gyrase poisoning, locking the enzyme in an ...
Franziska Fries, Jennifer Herrmann, Michael Dal Molin, Yaëlle Wormser, Timo Risch, Yunsheng Gao, Gareth Prosser, Francesca Gubellini, Ariel Mechaly, Joshua B. Wallach, Anthony Castro, Arka Banerjee, Sari Rasheed, Alexander Horn, Mathias Müsken, Michael Kurz, Lindsay Sonnenkalb, Viola Dreyer, Stefan Niemann, Sönke Andres, Dirk Schnappinger, Uli Kazmaier, Norbert Reiling, Rolf Müller, Jan Rybniker, Stéphanie Petrella   +25 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

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