Pages that link to "Q33600939"
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The following pages link to Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder (Q33600939):
Displaying 50 items.
- Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1 (Q24294279) (← links)
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy (Q24300457) (← links)
- NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency (Q24304313) (← links)
- Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I (Q24304454) (← links)
- C6ORF66 is an assembly factor of mitochondrial complex I (Q24305552) (← links)
- Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I (Q24315990) (← links)
- Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression (Q24317119) (← links)
- Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I (Q24319010) (← links)
- Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease (Q24336408) (← links)
- Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome (Q24337244) (← links)
- Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency (Q24533500) (← links)
- Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation (Q24620353) (← links)
- Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis (Q24630557) (← links)
- A mitochondrial protein compendium elucidates complex I disease biology (Q24655079) (← links)
- Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease (Q24676831) (← links)
- Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery (Q26850111) (← links)
- Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases (Q28069775) (← links)
- A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies (Q28116753) (← links)
- Isolated complex I deficiency in children: clinical, biochemical and genetic aspects (Q28143420) (← links)
- 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 (Q28180532) (← links)
- Respiratory chain complex I deficiency (Q28189572) (← links)
- De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency (Q28237030) (← links)
- Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound (Q28477645) (← links)
- Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy (Q28505379) (← links)
- Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene (Q28579972) (← links)
- Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (Q28646237) (← links)
- Human NADH:ubiquinone oxidoreductase (Q28646241) (← links)
- The energy-transducing NADH: quinone oxidoreductase, complex I (Q28646252) (← links)
- IL-15Rα deficiency in skeletal muscle alters respiratory function and the proteome of mitochondrial subpopulations independent of changes to the mitochondrial genome (Q29248840) (← links)
- Impact of repeated stress on traumatic brain injury-induced mitochondrial electron transport chain expression and behavioral responses in rats (Q30445368) (← links)
- Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy (Q30484862) (← links)
- A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (Q30887863) (← links)
- Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options (Q31034830) (← links)
- Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency (Q31159565) (← links)
- Respiratory chain deficiency in aged spinal motor neurons. (Q33906482) (← links)
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (Q34136223) (← links)
- Mitochondrial complex I activity suppresses inflammation and enhances bone resorption by shifting macrophage-osteoclast polarization (Q34143332) (← links)
- The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families (Q34163172) (← links)
- The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. (Q34171965) (← links)
- A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. (Q34295052) (← links)
- Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews (Q34327036) (← links)
- Clinical spectrum and diagnosis of mitochondrial disorders (Q34386724) (← links)
- Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. (Q34386775) (← links)
- Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. (Q34494711) (← links)
- Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene (Q34863206) (← links)
- X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (Q34607573) (← links)
- Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features (Q35038630) (← links)
- Mitochondrial encephalomyopathies (Q35085834) (← links)
- Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (Q35108601) (← links)
- MitProNet: A knowledgebase and analysis platform of proteome, interactome and diseases for mammalian mitochondria (Q35368510) (← links)