Citations for
1SCAR28, THG1L
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population
Rabin R, Hirsch Y, Johansson MM, Ekstein J, Ekstein A, Pappas J.
Am J Med Genet A. May;185(5):1589-1597. doi: 10.1002/ajmg.a.62147. Epub 2021 Mar 8. 2021
2SCAR28, THG1L
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 20195.
Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L.
Am J Med Genet A. Aug;179(8):1575-1579. doi: 10.1002/ajmg.a.61196. Epub 2019 Jun 2019
3SCAR28, THG1L
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 2016. PMID:
Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O
Neurogenetics. Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15 2016
4THG1L
IHG-1 must be localised to mitochondria to decrease Smad7 expression and amplify TGF-β1-induced fibrotic responses
Corcoran JB, McCarthy S, Griffin B, Gaffney A, Bhreathnach U, Börgeson E, Hickey FB, Docherty NG, Higgins DF, Furlong F, Martin F, Godson C, Murphy M.
Biochim Biophys Acta. Aug;1833(8):1969-78. doi: 10.1016/j.bbamcr.2013.03.027. Epub 2013 Apr 6. 2013
5PPARGC1A, THG1L
IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. 2011 . PMID:
Hickey FB, Corcoran JB, Docherty NG, Griffin B, Bhreathnach U, Furlong F, Martin F, Godson C, Murphy M.
J Am Soc Nephrol. Aug;22(8):1475-85. doi: 10.1681/ASN.2010111154. Epub 2011 Jul 22 2011
6THG1L
IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis.
Murphy M, Docherty NG, Griffin B, Howlin J, McArdle E, McMahon R, Schmid H, Kretzler M, Droguett A, Mezzano S, Brady HR, Furlong F, Godson C, Martin F.
J Am Soc Nephrol. Sep;19(9):1672-80. doi: 10.1681/ASN.2007101080. Epub 2008 May 28. 2008
7THG1L
Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation.
Guo D, Hu K, Lei Y, Wang Y, Ma T, He D.
J Biol Chem 279(51):53498-505. Epub 2004 Sep 29. 2004