106 related articles for article (PubMed ID: 26445863)
1. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Rodríguez-García ME; Martín-Hernández E; de Aragón AM; García-Silva MT; Quijada-Fraile P; Arenas J; Martín MA; Martínez-Azorín F
Neurogenetics; 2016 Jan; 17(1):51-6. PubMed ID: 26445863
[TBL] [Abstract][Full Text] [Related]
2. MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
Dweikat IM; Abdelrazeq S; Ayesh S; Jundi T
J Child Neurol; 2015 Jul; 30(8):1053-6. PubMed ID: 25051967
[TBL] [Abstract][Full Text] [Related]
3. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
Ünal Ö; Özgül RK; Yücel D; Yalnızoğlu D; Tokatlı A; Sivri HS; Hişmi B; Coşkun T; Dursun A
Turk J Pediatr; 2015; 57(4):388-393. PubMed ID: 27186703
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.
Radha Rama Devi A; Lingappa L
Eur J Med Genet; 2018 Feb; 61(2):100-103. PubMed ID: 28778788
[TBL] [Abstract][Full Text] [Related]
5. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O; Goldsher D; Nousbeck J; Fuchs-Telem D; Cohen-Katsenelson K; Iancu TC; Manov I; Saada A; Sprecher E; Mandel H
Am J Med Genet A; 2013 Sep; 161A(9):2204-15. PubMed ID: 23918762
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB; Vaz FM; Gardeitchik T; Vissers LE; Renkema GH; Schuurs-Hoeijmakers JH; Kulik W; Lammens M; Christin C; Kluijtmans LA; Rodenburg RJ; Nijtmans LG; Grünewald A; Klein C; Gerhold JM; Kozicz T; van Hasselt PM; Harakalova M; Kloosterman W; Barić I; Pronicka E; Ucar SK; Naess K; Singhal KK; Krumina Z; Gilissen C; van Bokhoven H; Veltman JA; Smeitink JA; Lefeber DJ; Spelbrink JN; Wevers RA; Morava E; de Brouwer AP
Nat Genet; 2012 Jun; 44(7):797-802. PubMed ID: 22683713
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Tort F; García-Silva MT; Ferrer-Cortès X; Navarro-Sastre A; Garcia-Villoria J; Coll MJ; Vidal E; Jiménez-Almazán J; Dopazo J; Briones P; Elpeleg O; Ribes A
Mol Genet Metab; 2013; 110(1-2):73-7. PubMed ID: 23707711
[TBL] [Abstract][Full Text] [Related]
8. Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V; Banerjee R; Lin KL; Pulli I; Cooper H; Tyynismaa H; Kallijärvi J
Biochim Biophys Acta Mol Basis Dis; 2022 Jan; 1868(1):166298. PubMed ID: 34751152
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.
Alagoz M; Kherad N; Turkmen S; Bulut H; Yuksel A
Exp Ther Med; 2020 Jun; 19(6):3505-3512. PubMed ID: 32346411
[TBL] [Abstract][Full Text] [Related]
10. First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Felhi R; Monastiri K; Ben Hamida H; Ammar M; Chioukh FZ; Tabarki B; Chouchen J; Fakhfakh F; Tlili A; Mkaouar-Rebai E
Int J Dev Neurosci; 2022 Dec; 82(8):736-747. PubMed ID: 35943861
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Snanoudj S; Mordel P; Dupas Q; Schanen C; Arion A; Gérard M; Read MH; Nait Rabah D; Goux D; Chapon F; Jokic M; Allouche S
Mol Genet Genomic Med; 2019 Aug; 7(8):e815. PubMed ID: 31251474
[TBL] [Abstract][Full Text] [Related]
12. MEGDEL Syndrome.
Finsterer J; Scorza FA; Fiorini AC; Scorza CA
Pediatr Neurol; 2020 Sep; 110():25-29. PubMed ID: 32684373
[TBL] [Abstract][Full Text] [Related]
13. [MEGDEL syndrome with an SERAC1 mutation: a case report].
Chen J; Peng J; Yin F
Zhonghua Er Ke Za Zhi; 2017 May; 55(5):394-395. PubMed ID: 28482397
[No Abstract] [Full Text] [Related]
14. A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.
Szabó A; Xiao X; Haughney M; Spector A; Sahin-Tóth M; Lowe ME
Biochim Biophys Acta; 2015 Jul; 1852(7):1372-9. PubMed ID: 25862608
[TBL] [Abstract][Full Text] [Related]
15. Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.
Alshammari SA; Alghamdi FA; Alhazmi R; Aldossary S
Case Rep Neurol; 2021; 13(2):429-433. PubMed ID: 34326751
[TBL] [Abstract][Full Text] [Related]
16. SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Fang H; Xie A; Du M; Li X; Yang K; Fu Y; Yuan X; Fan R; Yu W; Zhou Z; Sang T; Nie K; Li J; Zhao Q; Chen Z; Yang Y; Hong C; Lyu J
Sci Transl Med; 2022 Mar; 14(634):eabl6992. PubMed ID: 35235340
[TBL] [Abstract][Full Text] [Related]
17. [Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review].
Lin X; Lin X; Yan Z; Chen Y; Chen S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1100-1106. PubMed ID: 37643955
[TBL] [Abstract][Full Text] [Related]
18. Acid lipase in cultured fibroblasts: cholesterol ester storage disease.
Beaudet AL; Lipson MH; Ferry GD; Nichols BL
J Lab Clin Med; 1974 Jul; 84(1):54-61. PubMed ID: 4833843
[No Abstract] [Full Text] [Related]
19. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Akiyama M; Sakai K; Ogawa M; McMillan JR; Sawamura D; Shimizu H
Muscle Nerve; 2007 Dec; 36(6):856-9. PubMed ID: 17657808
[TBL] [Abstract][Full Text] [Related]
20. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
Badeloe S; van Geel M; Nagtzaam I; Rubio-Gozalbo ME; Oei RL; Steijlen PM; van Steensel MA
Br J Dermatol; 2008 Jun; 158(6):1378-80. PubMed ID: 18410411
[No Abstract] [Full Text] [Related]
[Next] [New Search]