Results 141 to 150 of about 5,510 (174)

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

Neurological Sciences, 2006
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase. In 1991, sterol 27-hydroxylase gene (CYP27A1) was localised on the long arm of chromosome 2 [1].
Gian Nicola Gallus, Federico A
exaly   +5 more sources

THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA: A NEW MUTATION IN CYP27A1 GENE

Neurology, 2008
Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder characterized by diarrhea and cataracts, usually appearing in the first decade of life, followed by growth of tendon xanthomas and progressive neurologic disability.1 The typical brain findings include MRI signal abnormalities mainly in the globus pallidus ...
SZLAGO M, GALLUS, GIAN NICOLA, SCHENONE A, PATINÕ ME, SFAELO Z, RUFA, ALESSANDRA, DA POZZO P, CARDAIOLI E, DOTTI, MARIA, FEDERICO, ANTONIO   +9 more
openaire   +4 more sources

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene

Acta Neurologica Belgica, 2019
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive defect of the alternative pathway of bile acid biosynthesis, due to the deficiency of mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. The deficit of sterol 27-hydroxylase raises cholestanol in plasma and tissues of affected patients. Although there is a marked
Gelzo M., Di Taranto M. D., Bisecco A., D'Amico A., Capuano R., Giacobbe C., Caputo M., Cirillo M., Tedeschi G., Fortunato G., Corso G.   +10 more
core   +6 more sources

CYP27A1-dependent anti-melanoma activity of limonoid natural products targets mitochondrial metabolism

Cell Chemical Biology, 2021
Three limonoid natural products with selective anti-proliferative activity against BRAF(V600E) and NRAS(Q61K)-mutation dependent melanoma cell lines were identified.
Hyelim Cho, Qiong Shen, Lydia H Zhang
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene

Clinical Neurology and Neurosurgery, 2012
T Kawanami, Manabu Wada
exaly   +3 more sources

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

International Journal of Neuroscience, 2020
Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX.Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried ...
Yi, Tang, Yanqiu, Liu, Dan, Li, Dongmei, Guo, Yi, Xing   +4 more
openaire   +2 more sources

Cloning and Characterization of Cyp7a1 and Cyp27a1 Genes from the Non-Parasitic Japanese Lamprey Lethenteron reissneri

Zoological Science, 2023
Two cytochrome P450 genes homologous to human CYP7A1 and CYP27A1 were cloned from the non-parasitic Japanese lamprey Lethenteron reissneri. Lamprey cyp7a1 mRNA had varied expression levels among individuals: about four orders of magnitude differences in larval liver and nearly three orders of magnitude differences in male adult liver.
Mayako, Morii, Taku, Hebiguchi, Ryo, Watanabe, Hiroaki, Yoshino, Yoshihiro, Mezaki   +4 more
openaire   +2 more sources

Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene

European Journal of Medical Genetics, 2012
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical manifestations such as tendon xanthomas, cataracts, osteopenia ...
Sunghwan, Suh, Hee Kyung, Kim, Hyung-Doo, Park, Chang-Seok, Ki, Mi Yeon, Kim, Sang-Man, Jin, Se Won, Kim, Kyu Yeon, Hur, Kwang-Won, Kim, Jae Hyeon, Kim   +9 more
openaire   +2 more sources