Search results

• Suarez-Cubero Marta
  ...for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome ==
  676 bytes (81 words) - 12:33, 1 September 2022
• RU Moscow Itkis YS
  |keyword=PDH-deficiency, Alpers syndrome, Leigh syndrome, mitochondrial DNA depletion syndromes
  514 bytes (57 words) - 16:49, 29 March 2018
• Tsygankova P
  * Research interests: PDH-deficiency, Alpers syndrome, Leigh syndrome, mitochondrial DNA depletion syndromes
  646 bytes (70 words) - 09:38, 21 February 2018
• Itkis 2010 Abstract IOC60
  |title=Itkis YS (2010) Respirometry application in Leigh disease diagnostic and treatment. MiPNet15.10. |abstract=[[Leigh syndrome]] is a case of mitochondrial disease frequently ascribed to mitochondrial r
  2 KB (290 words) - 22:38, 16 March 2019
• Li 2018 Gene
  ...ang H, Yang Y, Lyu J (2018) SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Gene ...and skin fibroblast biopsy, may help predict disease progression in Leigh syndrome patients.
  3 KB (368 words) - 14:39, 5 July 2023
• Pecina 2004 Am J Physiol Cell Physiol
  ...tek J (2004) Decreased affinity to oxygen of cytochrome c oxidase in Leigh syndrome caused by SURF1 mutations. Am J Physiol Cell Physiol 287:C1384-8. ...imitations of respiration, resulting in impaired energy provision in Leigh syndrome patients.
  2 KB (270 words) - 14:00, 27 December 2021
• Alahmad 2020 EMBO Mol Med
  ...RW (2020) Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med 12:e12619. ...ree affected children from two unrelated families who presented with Leigh syndrome due to homozygous variants (c.346_*7del and c.173A>T p.His58Leu) in NDUFC2,
  2 KB (340 words) - 16:19, 2 December 2021
• Barca 2018 Hum Mol Genet
  ...tation in the Ashkenazi Jewish population causes autosomal recessive Leigh syndrome by reduction of CV dimerization and ATP synthesis. |keywords=Leigh syndrome, Mitochondrial diseases, Complex V, ATP synthase, Encephalopathy
  3 KB (416 words) - 15:28, 2 January 2019
• Munoz-Pujol 2022 Brain Pathol
  ...Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F (2022) Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. https://doi.org/10 ...ase confirming that PTCD3 deficiency is definitively associated with Leigh syndrome.
  3 KB (458 words) - 16:00, 19 December 2023
• Tsygankova MiP2010
  ...of our study was to determine the most frequent molecular defect in Leigh syndrome patients and to reveal mutations in patients with another form of infantile ...of our study was to determine the most frequent molecular defect in Leigh syndrome patients and to reveal mutations in patients with another form of infantile
  5 KB (788 words) - 16:08, 15 February 2016
• Zhou 2022 J Hum Genet
  ...llelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. https://doi.org/10.1038/s10038-022-01102- |abstract=Leigh syndrome (LS)/Leigh-like syndrome (LLS) is one of the most common mitochondrial disease subtypes, caused by m
  2 KB (324 words) - 15:45, 19 December 2023
• Alston 2020 Am J Hum Genet
  ...J, Taylor RW (2020) Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Am J Hum Genet 106:92-101. ...is report serves to expand the genetic heterogeneity associated with Leigh syndrome and to validate the clinical utility of orphan protein characterization. We
  3 KB (439 words) - 11:24, 13 January 2020
• McElroy 2020 Cell Metab
  ...n without significantly improving motor function in a mouse model of Leigh syndrome driven by the loss of NDUFS4, a subunit of mitochondrial complex I. Therefo
  2 KB (235 words) - 23:40, 23 April 2023
• Meldau 2024 Mol Genet Metab Rep
  ...t in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency. Mol Genet Metab Rep 39:101078. https://doi.org/10 |abstract=Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children un
  3 KB (456 words) - 15:39, 9 April 2024
• Krylova 2017 Biomed Khim
  ...rmalities of complex I in fibroblasts of patients with LHON and Leigh-like syndrome. We also suggest HRR to be a useful method for inspection of other mutation |keywords=LHON, Leigh syndrome, Complex I deficiency, High-resolution respirometry
  3 KB (370 words) - 16:27, 16 January 2018
• Spinazzi 2019 Proc Natl Acad Sci U S A
  ...in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome. Proc Natl Acad Sci U S A 116:277-86. 10.1073/pnas.1811938116 ...n and structural abnormalities leading to neuronal necrosis and Leigh-like syndrome.
  3 KB (406 words) - 02:03, 18 April 2024
• Pecina 2003 Biochim Biophys Acta
  ...ctional alteration of cytochrome ''c'' oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta 1639:53-63. |abstract=Subacute necrotising encephalomyopathy (Leigh syndrome) due to cytochrome c oxidase (CIV; COX) deficiency is often caused by mutat
  3 KB (351 words) - 19:07, 1 April 2018
• Itkis MiP2010
  ...akharova EY, Mikhailova SV (2010) Rare mitochondrial mutations in cases of Leigh disease. Abstract MiP2010. |abstract=[[Leigh syndrome]], a case of mitochondrial disease, is a subacute necrotising [[encephalomy
  4 KB (565 words) - 16:06, 15 February 2016
• Xu 2017 J Hum Genet
  ...ne identified by targeted next-generation sequencing in patient with Leigh syndrome. J Hum Genet 62:291-7. ....11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m.11240C>T were detected in blood, urinary epithelium
  2 KB (283 words) - 20:07, 25 February 2020
• Brunelle 2005 Cell Metab
  ...bilization of HIF-1 alpha protein. Fibroblasts from a patient with Leigh's syndrome, which display residual levels of electron transport activity and are incom
  2 KB (223 words) - 13:37, 31 May 2019

View (previous 20 | next 20) (20 | 50 | 100 | 250 | 500)