Results 31 to 40 of about 2,812 (203)

Targeting mitochondrial 18 kDa translocator protein (TSPO) regulates macrophage cholesterol efflux and lipid phenotype [PDF]

, 2014
The aim of the present study was to establish mitochondrial cholesterol trafficking 18 kDa translocator protein (TSPO) as a potential therapeutic target, capable of increasing macrophage cholesterol efflux to (apo)lipoprotein acceptors.
Anne-Marie Allen, Annette Graham, Batarseh, Bird, Borthwick, Borthwick, Brown, Dmitrova-Shumkovska, Engel, Falchi, Farke, Feramisco, Fernandez-Hernando, Gallus, Gerrity, Gut, Hebbachi, Janice M. W. Taylor, Kannel, Khan, Lecanu, Madamanchi, Mercer, Ning, Ning, Ogata, Oram, Pandak, Puddu, Pyper, Rae, Ren, Rigamonti, Rone, Rosenson-Schloss, Rupprecht, Schnoor, Schultz, Taylor, Vanhee, Venkateswaran, Wang, Xu, Yelieev, Zeng, Zeng, Zoltan   +46 more
core   +1 more source

Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
core   +1 more source

A preventable ataxia: Cerebrotendinous xanthomatosis

Annals of Indian Academy of Neurology, 2019
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji, B Srikumar, Dileep Ramachandran   +2 more
doaj   +1 more source

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis [PDF]

, 2021
Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss of function mutations in CYP27A1 resulting in altered bile acid and lipid metabolism.
Batta, Bavner, Berginer, Berginer, Bhattacharyya, Bindl, Bjorkhem, Björkhem, Cali, Chiang, Chiang, Crick, Crick, DeBarber, Duane, Duell, Ellis, Griffiths, Griffiths, Heverin, Kim, Li, Lutjohann, Lv, Mackay, Meaney, Nie, Piguet, Pilo de la Fuente, Popp, Radhakrishnan, Salen, Salen, Schols, Smith, Stelten, Theofilopoulos, Uhlen, Vaz   +38 more
core   +1 more source

Cerebellum: an explanation for dystonia? [PDF]

, 2017
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas.
Berardelli, Alfredo, Bologna, Matteo
core   +1 more source

High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 more
doaj   +1 more source

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Journal of Investigative Medicine High Impact Case Reports, 2023
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD, Roham Sarmadian MD, Rana Irilouzadian MD, Habibe Nejad Biglari MD, Abolfazl Gilani MD   +4 more
doaj   +1 more source

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. [PDF]

, 2023
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. Due to
Bargagli, A., Lopergolo, D., Pretegiani, E., Rosini, F., Rufa, A., Serchi, V.   +5 more
core   +1 more source

Context-dependent compensation among phosphatidylserine-recognition receptors [PDF]

, 2017
Phagocytes express multiple phosphatidylserine (PtdSer) receptors that recognize apoptotic cells. It is unknown whether these receptors are interchangeable or if they play unique roles during cell clearance.
Han, Claudia Z, Lee, Chang Sup, Lysiak, Jeffrey J, Onengut-Gumuscu, Suna, Palczewski, Krzysztof, Penberthy, Kristen K, Perry, Justin SA, Ravichandran, Kodi, Raymond, Michael H, Rival, Claudia, Shankman, Laura S, Zhang, Jianye   +11 more
core   +3 more sources

Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings

Archives of Medicine and Health Sciences, 2020
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
doaj   +1 more source