| A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients. | A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Mo L, Tie X, Che F, Zhang L, Li B, Wang G, Yang Y. | 02/21/2024 |
| The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families. | The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Hashemi N, Abadi RNS, Alavi A, Rohani M, Ghasemi A, Tavasoli AR. | 11/16/2023 |
| Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases. | Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Eckhardt M., Free PMC Article | 03/14/2023 |
| Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H. | Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Abbas S, Brugger B, Zubair M, Gul S, Blatterer J, Wenninger J, Rehman K, Tatrai B, Khan MA, Windpassinger C. | 11/13/2021 |
| Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses. | Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
Qi T, Wu D, Duan Z, Chen C, Qiu J, Kang J. | 06/26/2021 |
| 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis. | 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
Sun L, Yang X, Huang X, Yao Y, Wei X, Yang S, Zhou D, Zhang W, Long Z, Xu X, Zhu X, He S, Su X. | 05/8/2021 |
| Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration. | Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
Hirao-Suzuki M, Koga T, Sakai G, Kobayashi T, Ishii Y, Miyazawa H, Takiguchi M, Sugihara N, Toda A, Ohara M, Takeda S. | 03/13/2021 |
| High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma | High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Lemay AM, Courtemanche O, Couttas TA, Jamsari G, Gagné A, Bossé Y, Joubert P, Don AS, Marsolais D., Free PMC Article | 06/27/2020 |
| Hereditary spastic paraplegia type 35 caused by the FA2H mutation in a family from Mali has been described. | Hereditary spastic paraplegia type 35 in a family from Mali.
Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO, from The H3Africa Consortium., Free PMC Article | 06/13/2020 |
| Study reports the clinical, neuroimaging, biochemical, and molecular findings in three novel unrelated patients with new mutations in FA2H, comparing their features with those previously reported in autosomal recessive spastic paraplegia 35 (SPG35). | Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM. | 09/28/2019 |
| Novel variant c.130C>T (p.Pro44Ser) in homozygous status in exon 1 of the FA2H gene is described in a Czech patient with SPG35. | Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
Uhrova Meszarosova A, Safka Brozkova D, Vyhnalek M, Mazanec R, Lastuvkova J, Trkova M, Bittoova M, Soldatova I, Seeman P. | 02/16/2019 |
| PGRMC1 may regulate FA2H activity, possibly through its heme chaperone activity. | Identification of progesterone receptor membrane component-1 as an interaction partner and possible regulator of fatty acid 2-hydroxylase.
Hardt R, Winter D, Gieselmann V, Eckhardt M. | 01/12/2019 |
| Novel mutations in FA2H in Arab patients with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis were identified. | Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG. | 03/5/2016 |
| Three novel mutations in Chinese patients significantly reduce FA2H enzyme activity leading to hereditary spastic paraplegia. | SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
Liao X, Luo Y, Zhan Z, Du J, Hu Z, Wang J, Guo J, Hu Z, Yan X, Pan Q, Xia K, Tang B, Shen L. | 08/22/2015 |
| Induced levels of PPARalpha may be involved in the Delta(9)-THC up-regulation of FA2H in MDA-MB-231 cells. | Δ(9)-THC modulation of fatty acid 2-hydroxylase (FA2H) gene expression: possible involvement of induced levels of PPARα in MDA-MB-231 breast cancer cells.
Takeda S, Ikeda E, Su S, Harada M, Okazaki H, Yoshioka Y, Nishimura H, Ishii H, Kakizoe K, Taniguchi A, Tokuyasu M, Himeno T, Watanabe K, Omiecinski CJ, Aramaki H., Free PMC Article | 02/14/2015 |
| One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. | Heterozygous FA2H mutations in autism spectrum disorders.
Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsäter H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T, Delorme R., Free PMC Article | 01/11/2014 |
| Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35. | A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
Cao L, Huang XJ, Chen CJ, Chen SD. | 12/21/2013 |
| FA2H is a novel (9)-THC-regulated gene, and that (9)-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells. | Induction of the fatty acid 2-hydroxylase (FA2H) gene by Δ(9)-tetrahydrocannabinol in human breast cancer cells.
Takeda S, Harada M, Su S, Okajima S, Miyoshi H, Yoshida K, Nishimura H, Okamoto Y, Amamoto T, Watanabe K, Omiecinski CJ, Aramaki H., Free PMC Article | 09/7/2013 |
| we report a novel mutation in FA2H gene in two sibs presenting with adult onset complicated spastic paraparesis and thin corpus callosum | Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
Tonelli A, D'Angelo MG, Arrigoni F, Brighina E, Arnoldi A, Citterio A, Bresolin N, Bassi MT. | 06/15/2013 |
| This study did not find any mutations in the FA2H gene in patients with neurodegeneration with brain iron accumulation. | C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia B, Simonati A, Bertini E, Nardocci N, Tiranti V. | 11/3/2012 |
| a novel homozygous c.270+3A>T mutation altered FA2H function led to a severe phenotype, with clinical features overlapping those in three FA2H-associated disorders | FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. | 12/24/2011 |
| The 2-hydroxylated sphingomyelin (SM) profiles were characterized in blood and fibroblasts from patients harboring a deleterious FA2H mutation. | 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
Dan P, Edvardson S, Bielawski J, Hama H, Saada A., Free PMC Article | 09/24/2011 |
| Mutations in FA2H are associated with hereditary spastic paraplegia. | Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. | 08/2/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesFine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. | 12/2/2009 |