Results 1 to 10 of about 5,510 (174)

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report [PDF]

Journal of Medical Case Reports
Background Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially ...
Yushi Oyama, Keishiro Okawa, Takuya Miyagi, Takahiro Sakai, Kyuhachi Otagiri, Hiroshi Kitabayashi   +5 more
doaj   +6 more sources

Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia [PDF]

Frontiers in Neurology, 2023
BackgroundCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests ...
Min Young Chun, Min Young Chun, Min Young Chun, Nam Jin Heo, Sang Won Seo, Sang Won Seo, Sang Won Seo, Sang Won Seo, Hyemin Jang, Hyemin Jang, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim, Hee Jin Kim, Hee Jin Kim, Hee Jin Kim   +21 more
doaj   +8 more sources

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy [PDF]

Biomedicines, 2023
Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene.
Petar Brlek, Luka Bulić, David Glavaš Weinberger, Jelena Bošnjak, Tomislav Pavlović, Svetlana Tomić, Zdravka Krivdić Dupan, Igor Borić, Dragan Primorac   +8 more
doaj   +6 more sources

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis [PDF]

Genetics and Molecular Biology, 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol ...
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos   +11 more
doaj   +12 more sources

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report [PDF]

Journal of Medical Case Reports
Background Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX.
Je Hong Min, Yoon Seob Kim, Myeong Jin Son, In Soo Joo   +3 more
doaj   +6 more sources

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population [PDF]

Molecular Genetics and Metabolism Reports, 2015
Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis.
Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, Mathew Alexander, Sniya Valsa Sudhakar, Samuel Hansdak, Rini Bandyopadhyay, G.B. Bakhya Shree, L. Rekha   +8 more
doaj   +5 more sources

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. [PDF]

Intern Med, 2018
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels.
Sasamura A, Akazawa S, Haraguchi A, Horie I, Ando T, Abiru N, Takei H, Nittono H, Une M, Kurosawa T, Murai T, Naruse H, Nakayama T, Kotani K, Remaley AT, Kawakami A.   +15 more
europepmc   +7 more sources

Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis [PDF]

Molecular Therapy: Methods & Clinical Development, 2021
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. Disruption of the bile acid biosynthesis pathway and accumulation of toxic precursors such as cholestanol ...
Sara Lumbreras, Ana Ricobaraza, Lucia Baila-Rueda, Manuela Gonzalez-Aparicio, Lucia Mora-Jimenez, Iker Uriarte, Maria Bunuales, Matias A. Avila, Maria J. Monte, Jose J.G. Marin, Ana Cenarro, Gloria Gonzalez-Aseguinolaza, Ruben Hernandez-Alcoceba   +12 more
doaj   +6 more sources

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene [PDF]

Orphanet Journal of Rare Diseases
Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35.
Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir   +6 more
doaj   +4 more sources

CYP27A1 suppresses brain metastasis via ferroptosis in lung adenocarcinoma: a six-gene signature predicting the immunotherapy response and clinical outcomes [PDF]

Cancer Cell International
Background: Lung adenocarcinoma (LUAD) brain metastasis has limited therapeutic options and a poor prognosis. This study aimed to identify molecular drivers, construct a prognostic model, and assess immunotherapy response.
Lu Xu, Liyou Huang, Zihao Liu, Xiaojie Jiang, Linchun Wen   +4 more
doaj   +5 more sources