Results 61 to 70 of about 10,325 (203)

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

Molecular Genetics and Metabolism Reports, 2021
Introduction: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B).
Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein   +3 more
doaj   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]

, 2017
Additional file 1.
Carmen Dominguez, Isabel De Castro-Orós, Jorge Javier Cebolla, María Jesús Pueyo, Miguel Mallén, Miguel Pocoví, null null, Pilar Irún, Pilar Mozas, Victor Rodriguez-Sureda   +9 more
core   +3 more sources

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

BMC Gastroenterology, 2022
Background Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course.
Neng-Li Wang, Jing Lin, Lian Chen, Yi Lu, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Jian-She Wang   +6 more
doaj   +1 more source

Lysosomal cholesterol accumulation sensitizes to acetaminophen hepatotoxicity by impairing mitophagy.

, 2015
The role of lysosomes in acetaminophen (APAP) hepatotoxicity is poorly understood. Here, we investigated the impact of genetic and drug-induced lysosomal cholesterol (LC) accumulation in APAP hepatotoxicity.
Alarcón-Vila, C, Baulies, A, Fernández-Checa, JC, García-Ruiz, C, Kaplowitz, N, Martínez, L, Núñez, S, Ribas, V, Suda, J, Torres, S, Ybanez, MD   +10 more
core   +1 more source

Ceramides and mitochondrial fatty acid oxidation in obesity [PDF]

, 2017
: Obesity is an epidemic, complex disease that is characterized by increased glucose, lipids, and low-grade inflammation in the circulation, among other factors.
Casals i Farré, Núria, Fucho Salvador, Raquel, Herrero Rodríguez, Laura, Serra i Cucurull, Dolors   +3 more
core   +1 more source

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Scientific Reports, 2021
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob   +7 more
doaj   +1 more source

Manipulation of lipid rafts in neuronal cells [PDF]

, 2010
Lipid rafts are specialized plasma membrane micro-domains highly enriched in cholesterol, sphingolipids and glycosylphosphatidylinositol (GPI) anchored proteins.
Eckert, Gunter P.
core   +1 more source

The plant decapeptide OSIP108 can alleviate mitochondrial dysfunction induced by cisplatin in human cells [PDF]

, 2014
We investigated the effect of the Arabidopsis thaliana-derived decapeptide OSIP108 on human cell tolerance to the chemotherapeutic agent cisplatin (Cp), which induces apoptosis and mitochondrial dysfunction.
Alborzinia, Hamed, Cammue, Bruno P. A, Cassiman, David, Cheneval, Olivier, Craik, David J., Dekervel, Jeroen, Ott, Ingo, Schur, Julia, Spincemaille, Pieter, Thevissen, Karin, van Pelt, Jos, Windmolders, Petra, Wolfl, Stefan   +12 more
core   +2 more sources

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source