Results 71 to 80 of about 4,693,382 (193)

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities

Journal of Lipid Research, 1999
Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.e ...
E.C.J.M. de Vet, L. Ijlst, W. Oostheim, C. Dekker, H.W. Moser, H. van den Bosch, R.J.A. Wanders   +6 more
doaj   +1 more source

Reassessing very long chain fatty acids elevations: Sitosterolemia as a non-peroxisomal cause

Molecular Genetics and Metabolism Reports
Very-long-chain fatty acids (VLCFAs) are commonly used to diagnose peroxisomal disorders, but elevated levels may also result from other non-peroxisomal causes, leading to diagnostic challenges.
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş   +3 more
doaj   +1 more source

Fission Impossible (?)—New Insights into Disorders of Peroxisome Dynamics

Cells, 2022
Peroxisomes are highly dynamic and responsive organelles, which can adjust their morphology, number, intracellular position, and metabolic functions according to cellular needs.
Ruth E. Carmichael, Markus Islinger, Michael Schrader   +2 more
doaj   +1 more source

Mode‐of‐Action and Human Relevance Assessment for Diisononyl Phthalate‐Induced Liver Tumors in Rodents

Journal of Applied Toxicology, EarlyView.
ABSTRACT Diisononyl phthalate (DINP) is a high molecular weight phthalate and high production volume chemical. DINP's carcinogenic potential has been investigated in four rodent bioassays, with liver tumors observed in three of the studies. Authoritative assessments have hypothesized that DINP acts through the peroxisome proliferator‐activated receptor
Amanda N. Buerger, Melissa M. Heintz, Laurie C. Haws, Chad M. Thompson   +3 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

Journal of Inborn Errors of Metabolism and Screening, 2018
The clinical as well as biochemical and genetic spectrum of peroxisomal diseases has markedly increased over the last few years, thanks to the revolutionary advances in the field of genome analysis and several -omics technologies.
Ronald J. A. Wanders PhD, Frédéric M. Vaz PhD, Sacha Ferdinandusse PhD, Stephan Kemp PhD, Merel S. Ebberink PhD, Hans R. Waterham PhD   +5 more
doaj   +1 more source

Therapies for Cardiovascular‐Kidney‐Liver‐Metabolic Syndrome: Reappraisal of Fibrates

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Cardiovascular disease, chronic kidney disease (CKD), type 2 diabetes mellitus (T2DM), obesity and metabolic dysfunction‐associated steatohepatitis (MASH) frequently coexist and share overlapping pathophysiology, forming the proposed cardiovascular‐kidney‐liver‐metabolic (CKLM) syndrome.
Virginia Anagnostopoulou, Christoforos K. Travlos, Lucas Lage Marinho, Thomas A. Mavrakanas, João Pedro Ferreira, Abhinav Sharma   +5 more
wiley   +1 more source

Peroxisome biogenesis and peroxisome biogenesis disorders

FEBS Letters, 2000
Peroxisome assembly in mammals requires more than 15 genes. Two isoforms of the peroxisome targeting signal type 1 (PTS1) receptor, Pex5pS and Pex5pL, are identified in mammals. Pex5pS and Pex5pL bind PTS1 proteins. Pex5pL, but not Pex5pS, directly interacts with the PTS2 receptor, Pex7p, carrying its cargo PTS2 protein in the cytosol.
openaire   +2 more sources

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Autophagy, 2017
Peroxisome biogenesis disorders (PBDs) are metabolic disorders caused by the loss of peroxisomes. The majority of PBDs result from mutation in one of 3 genes that encode for the peroxisomal AAA ATPase complex (AAA-complex) required for cycling PEX5 for ...
Kelsey B. Law, Dana M. Bronte-Tinkew, E. Di Pietro, A. Snowden, Richard O. Jones, A. Moser, J. Brumell, N. Braverman, P. Kim   +8 more
semanticscholar   +1 more source

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source