Found: 29
Select item for more details and to access through your institution.
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 563, doi. 10.1007/s00439-002-0884-2
- By:
- Publication type:
- Article
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
- Published in:
- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
- By:
- Publication type:
- Article
An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement.
- Published in:
- Journal of Clinical Medicine, 2017, v. 6, n. 6, p. 58, doi. 10.3390/jcm6060058
- By:
- Publication type:
- Article
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192
- By:
- Publication type:
- Article
Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2028, doi. 10.3390/ijms21062028
- By:
- Publication type:
- Article
Mitochondria are physiologically maintained at close to 50 °C.
- Published in:
- PLoS Biology, 2018, v. 16, n. 1, p. 1, doi. 10.1371/journal.pbio.2003992
- By:
- Publication type:
- Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2007, v. 39, n. 6, p. 776, doi. 10.1038/ng2040
- By:
- Publication type:
- Article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.17163
- By:
- Publication type:
- Article
Lipid and protein changes in jojoba callus under salt stress.
- Published in:
- Physiologia Plantarum, 1992, v. 86, n. 3, p. 372, doi. 10.1034/j.1399-3054.1992.860305.x
- By:
- Publication type:
- Article
The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09598-9
- By:
- Publication type:
- Article
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
- Published in:
- BMC Biochemistry, 2003, v. 4, p. 1
- By:
- Publication type:
- Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
- Published in:
- Prenatal Diagnosis, 1992, v. 12, n. 6, p. 548, doi. 10.1002/pd.1970120614
- By:
- Publication type:
- Article
Nuclear Outsourcing of RNA Interference Components to Human Mitochondria.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020746
- By:
- Publication type:
- Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
- By:
- Publication type:
- Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192
- By:
- Publication type:
- Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 765, doi. 10.1172/JCI29089
- By:
- Publication type:
- Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
- By:
- Publication type:
- Article
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 323, doi. 10.1002/humu.9319
- By:
- Publication type:
- Article
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy(Communicated by Henrik Dahl).
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 582, doi. 10.1002/humu.10225
- By:
- Publication type:
- Article
Pitfalls in Monitoring Mitochondrial Temperature Using Charged Thermosensitive Fluorophores.
- Published in:
- Chemosensors, 2020, v. 8, n. 4, p. 124, doi. 10.3390/chemosensors8040124
- By:
- Publication type:
- Article
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0224132
- By:
- Publication type:
- Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562
- By:
- Publication type:
- Article
Clinical and biochemical heterogeneity associated with fumarase deficiency.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534
- By:
- Publication type:
- Article
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 6, p. 579, doi. 10.1002/ana.21207
- By:
- Publication type:
- Article
Mitochondrial cytochrome c oxidase deficiency.
- Published in:
- Clinical Science, 2016, v. 130, n. 6, p. 393, doi. 10.1042/CS20150707
- By:
- Publication type:
- Article
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3273, doi. 10.1093/hmg/11.26.3273
- By:
- Publication type:
- Article
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
- By:
- Publication type:
- Article