Results 141 to 150 of about 1,105,094 (212)

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Human Molecular Genetics, 2001
J. Matsuda, M. Vanier, Y. Saito, J. Tohyama, Kinuko Suzuki, Kunihiko Suzuki   +5 more
semanticscholar   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system. [PDF]

Brain Pathol
Li T, He H, Zhang E, Hu F, Wang Z, Xu J, Zeng M, Peng B.   +7 more
europepmc   +1 more source

DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis. [PDF]

Nat Commun
Khan UK, Goel A, Nigam S, Chaudhary N, Praveen A, Roy A, Fatima F, Sawhney DK, Dalwai A, Shendre A, Carskadon S, Bajpai A, Kapoor A, Tewari A, Chandra A, Saklani A, Dalal SN, Palanisamy N, Ateeq B.   +18 more
europepmc   +1 more source

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

Human Molecular Genetics, 1996
N. Fujita, Kinuko Suzuki, Marie T. Vanier, Brian Popko, Nobuyo Maeda, Andreas Klein, M. Henseler, Konrad Sandhoff, Hiroyuki Nakayasu, Kunihiko Suzuki   +9 more
semanticscholar   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Therapeutic potential of the sphingosine kinase 2 inhibitor opaganib. [PDF]

Pharm Sci Adv
Huang F, Zhan P, Shi X, Sun Y, Song X, Sun P, Liu B.   +6 more
europepmc   +1 more source

Interorgan crosstalk in metabolic dysfunction-associated steatotic liver disease. [PDF]

Chin Med J (Engl)
Yang R, Fang Z, He F, Wang L.
europepmc   +1 more source

Proteomic analysis of mitochondria-ER contacts reveals key proteins involved in metabolic regulation in hepatocytes. [PDF]

Cell Commun Signal
Yang H, Wang X, Wang C, Zhang X, Kong B, Bai R, Xu X, Li Z, Xu T, Zhou M.   +9 more
europepmc   +1 more source

The Biological Significance of Calmodulin Binding to Lipids. [PDF]

Biology (Basel)
O'Day DH.
europepmc   +1 more source

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis. [PDF]

Orphanet J Rare Dis
Liu Y, Luo X, Ranjbar S, Aerts JMFG, van der Lienden M, Dardis A, Fleming RMT.   +6 more
europepmc   +1 more source