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Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Sofou K, et al. Among authors: asin cayuela j. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. EMBO Mol Med. 2021. PMID: 33938619 Free PMC article.
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K, Kollberg G, Holmström M, Dávila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J. Sofou K, et al. Among authors: asin cayuela j. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. doi: 10.1002/mgg3.115. Epub 2014 Oct 23. Mol Genet Genomic Med. 2015. PMID: 25629079 Free PMC article.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Burda P, et al. Among authors: asin cayuela j. J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633902 Free article. Review.
MTERF2 is a nucleoid component in mammalian mitochondria.
Pellegrini M, Asin-Cayuela J, Erdjument-Bromage H, Tempst P, Larsson NG, Gustafsson CM. Pellegrini M, et al. Among authors: asin cayuela j. Biochim Biophys Acta. 2009 May;1787(5):296-302. doi: 10.1016/j.bbabio.2009.01.018. Epub 2009 Feb 3. Biochim Biophys Acta. 2009. PMID: 19366608 Free article.
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H. Euro L, et al. Among authors: asin cayuela j. Front Genet. 2015 Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015. Front Genet. 2015. PMID: 25705216 Free PMC article.
MTERF3 is a negative regulator of mammalian mtDNA transcription.
Park CB, Asin-Cayuela J, Cámara Y, Shi Y, Pellegrini M, Gaspari M, Wibom R, Hultenby K, Erdjument-Bromage H, Tempst P, Falkenberg M, Gustafsson CM, Larsson NG. Park CB, et al. Among authors: asin cayuela j. Cell. 2007 Jul 27;130(2):273-85. doi: 10.1016/j.cell.2007.05.046. Cell. 2007. PMID: 17662942 Free article.
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