Holt IJ - Search Results

1

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. Bugiardini E, et al. Among authors: holt ij. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093. Hum Mol Genet. 2019. PMID: 31039582 Free PMC article.

2

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

McShane MA, Hammans SR, Sweeney M, Holt IJ, Beattie TJ, Brett EM, Harding AE. McShane MA, et al. Among authors: holt ij. Am J Hum Genet. 1991 Jan;48(1):39-42. Am J Hum Genet. 1991. PMID: 1985462 Free PMC article.

3

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. Holt IJ, et al. Am J Hum Genet. 1990 Mar;46(3):428-33. Am J Hum Genet. 1990. PMID: 2137962 Free PMC article.

4

Mitochondrial DNA polymorphism in mitochondrial myopathy.

Holt IJ, Harding AE, Morgan-Hughes JA. Holt IJ, et al. Hum Genet. 1988 May;79(1):53-7. doi: 10.1007/BF00291710. Hum Genet. 1988. PMID: 2896621

5

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AH. Bodnar AG, et al. Among authors: holt ij. Am J Hum Genet. 1993 Sep;53(3):663-9. Am J Hum Genet. 1993. PMID: 8394647 Free PMC article.

6

Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA.

Vergani L, Rossi R, Brierley CH, Hanna M, Holt IJ. Vergani L, et al. Among authors: holt ij. Hum Mol Genet. 1999 Sep;8(9):1751-5. doi: 10.1093/hmg/8.9.1751. Hum Mol Genet. 1999. PMID: 10441339

7

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ, Suomalainen A. Tyynismaa H, et al. Among authors: holt ij. Hum Mol Genet. 2004 Dec 15;13(24):3219-27. doi: 10.1093/hmg/ddh342. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509589

8

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.

He J, Cooper HM, Reyes A, Di Re M, Sembongi H, Litwin TR, Gao J, Neuman KC, Fearnley IM, Spinazzola A, Walker JE, Holt IJ. He J, et al. Among authors: holt ij. Nucleic Acids Res. 2012 Jul;40(13):6109-21. doi: 10.1093/nar/gks266. Epub 2012 Mar 26. Nucleic Acids Res. 2012. PMID: 22453275 Free PMC article.

9

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis.

Johnson MA, Vidoni S, Durigon R, Pearce SF, Rorbach J, He J, Brea-Calvo G, Minczuk M, Reyes A, Holt IJ, Spinazzola A. Johnson MA, et al. Among authors: holt ij. PLoS One. 2014 Apr 9;9(4):e93597. doi: 10.1371/journal.pone.0093597. eCollection 2014. PLoS One. 2014. PMID: 24718614 Free PMC article.

10

MPV17L2 is required for ribosome assembly in mitochondria.

Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A. Dalla Rosa I, et al. Among authors: holt ij. Nucleic Acids Res. 2014 Jul;42(13):8500-15. doi: 10.1093/nar/gku513. Epub 2014 Jun 19. Nucleic Acids Res. 2014. PMID: 24948607 Free PMC article.

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