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2004 1
2008 1
2009 1
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2012 1
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11 results

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Page 1
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A. Jackson CB, et al. Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28412374
Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency. Native PAGE with subsequent immunoblotting for complex V revealed impaired complex V …
Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated …
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18. Brain. 2013. PMID: 23599390
Here, we present two siblings with a severe neonatal encephalopathy caused by complex V deficiency. The aim of this study was to uncover the underlying genetic defect using the combination of enzymatic testing and whole exome sequence analysis, and to provide …
Here, we present two siblings with a severe neonatal encephalopathy caused by complex V deficiency. The aim of this stu …
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR. Staretz-Chacham O, et al. Am J Med Genet A. 2019 Jul;179(7):1293-1298. doi: 10.1002/ajmg.a.61138. Epub 2019 Apr 4. Am J Med Genet A. 2019. PMID: 30950220 Free PMC article.
TMEM70 encodes a nuclear protein involved in the assembly of respiratory chain complex V. Although mutations in various genes can result in isolated complex V deficiency; TMEM70 mutations represent the most common reported etiology. ...
TMEM70 encodes a nuclear protein involved in the assembly of respiratory chain complex V. Although mutations in various genes can result in …
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS. Cohen I, et al. Am J Med Genet A. 2018 Feb;176(2):330-336. doi: 10.1002/ajmg.a.38574. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226520
Brain MRI revealed ventriculomegaly, thin corpus callosum with increased lactate peak on spectroscopy. Mitochondrial complex V deficiency was demonstrated in skeletal muscle biopsy of one infant. ...Thus, SLC25A1 mutations might be associated with mitochondri …
Brain MRI revealed ventriculomegaly, thin corpus callosum with increased lactate peak on spectroscopy. Mitochondrial complex V …
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156
In children with a hepatocerebral phenotype most patients presented with complex I deficiency and mtDNA-depletion, three of which carried POLG1-mutations. In the cardiomyopathic subgroup most patients had complex V deficiency and an overlapping phenotype with …
In children with a hepatocerebral phenotype most patients presented with complex I deficiency and mtDNA-depletion, three of which carried PO …
Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders.
Ma YY, Zhang XL, Wu TF, Liu YP, Wang Q, Zhang Y, Song JQ, Wang YJ, Yang YL. Ma YY, et al. J Child Neurol. 2011 Aug;26(8):974-9. doi: 10.1177/0883073811399905. Epub 2011 May 3. J Child Neurol. 2011. PMID: 21540367
Twenty (31.2%) patients had isolated complex defects, complex I deficiency (n = 2, 3.1%), complex II deficiency (n = 3, 4.7%), complex III deficiency (n = 5, 7.8%), complex IV deficiency (n = 5, 7.8%), and complex V deficiency (n = 5, 7.8%). Nine patients wer …
Twenty (31.2%) patients had isolated complex defects, complex I deficiency (n = 2, 3.1%), complex II deficiency (n = 3, 4.7%), complex III d …
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Mackay L, et al. Am J Med Genet A. 2023 May;191(5):1366-1372. doi: 10.1002/ajmg.a.63131. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751706
TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 (MIM: 614052) is the most common nuclear encoded defect affecting ATP synthase and has been well described in the literature as being characterized by neonatal or infantile onset of …
TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 (MIM: 614052) is the most common nuclear e …
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R. De Meirleir L, et al. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047. J Med Genet. 2004. PMID: 14757859 Free PMC article.
Recently, much attention has turned to the investigation of nuclear oxidative phosphorylation (OXPHOS) gene defects. Within the OXPHOS defects, complex V deficiency is rarely found and, so far, these defects have only been attributed to mutations in the mitoc …
Recently, much attention has turned to the investigation of nuclear oxidative phosphorylation (OXPHOS) gene defects. Within the OXPHOS defec …
11 results