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Editorial: Metabolic modulation of cellular function.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1395922
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- Publication type:
- Article
Editorial: Metabolic modulation of cellular function.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1395922
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- Publication type:
- Article
High Sucrose Diet-Induced Subunit I Tyrosine 304 Phosphorylation of Cytochrome c Oxidase Leads to Liver Mitochondrial Respiratory Dysfunction in the Cohen Diabetic Rat Model.
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- Antioxidants, 2024, v. 13, n. 1, p. 19, doi. 10.3390/antiox13010019
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- Article
Mitochondrial‐derived vesicles retain membrane potential and contain a functional ATP synthase.
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- EMBO Reports, 2023, v. 24, n. 5, p. 1, doi. 10.15252/embr.202256114
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- Publication type:
- Article
The Beneficial Effect of Mitochondrial Transfer Therapy in 5XFAD Mice via Liver–Serum–Brain Response.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 7, p. 1006, doi. 10.3390/cells12071006
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- Publication type:
- Article
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 232, doi. 10.1002/jimd.12580
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- Publication type:
- Article
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4149, doi. 10.3390/ijms23084149
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- Article
Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-Cells.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 929, doi. 10.3390/cells11060929
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- Publication type:
- Article
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
- Published in:
- 2022
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- Publication type:
- journal article
Multifaceted Analyses of Isolated Mitochondria Establish the Anticancer Drug 2-Hydroxyoleic Acid as an Inhibitor of Substrate Oxidation and an Activator of Complex IV-Dependent State 3 Respiration.
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- Cells (2073-4409), 2022, v. 11, n. 3, p. 578, doi. 10.3390/cells11030578
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- Article
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099
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- Article
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
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- Genes, 2021, v. 12, n. 8, p. 1140, doi. 10.3390/genes12081140
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- Article
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing.
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- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab197
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- Publication type:
- Article
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
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- Metabolic Brain Disease, 2021, v. 36, n. 4, p. 581, doi. 10.1007/s11011-021-00671-1
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- Publication type:
- Article
Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.
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- Cells (2073-4409), 2021, v. 10, n. 2, p. 452, doi. 10.3390/cells10020452
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- Publication type:
- Article
Treatment of ErbB2 breast cancer by mitochondrial targeting.
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- Cancer & Metabolism, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40170-020-00223-8
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- Publication type:
- Article
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
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- Cells (2073-4409), 2020, v. 9, n. 2, p. 301, doi. 10.3390/cells9020301
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- Publication type:
- Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.961
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- Publication type:
- Article
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
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- Neurochemical Research, 2019, v. 44, n. 10, p. 2372, doi. 10.1007/s11064-019-02786-5
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- Publication type:
- Article
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
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- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 557, doi. 10.1007/s11011-019-0384-x
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- Publication type:
- Article
Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease.
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- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809962
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- Publication type:
- Article
Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198196
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- Publication type:
- Article
A novel homozygous <italic>SLC25A1</italic> mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 330, doi. 10.1002/ajmg.a.38574
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- Publication type:
- Article
The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study.
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- Journal of Clinical Medicine, 2017, v. 6, n. 3, p. 31, doi. 10.3390/jcm6030031
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- Publication type:
- Article
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.
- Published in:
- Journal of Clinical Medicine, 2017, v. 6, n. 1, p. 1, doi. 10.3390/jcm6010001
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- Publication type:
- Article
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165417
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- Publication type:
- Article
Two transgenic mouse models for ß-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.
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- Biochemical Journal, 2016, v. 473, n. 20, p. 3463, doi. 10.1042/BCJ20160594
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- Publication type:
- Article
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1603, doi. 10.1002/ajmg.a.37624
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- Publication type:
- Article
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.
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- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005388
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- Article
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 159, doi. 10.1038/ejhg.2014.85
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- Publication type:
- Article
PF-4708671 Activates AMPK Independently of p70S6K1 Inhibition.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107364
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- Article
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1019, doi. 10.1038/ejhg.2013.284
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- Publication type:
- Article
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
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- Publication type:
- Article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1030, doi. 10.1093/brain/awu019
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- Article
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 2, p. 243, doi. 10.1007/s00431-013-2153-x
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- Publication type:
- Article
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2204, doi. 10.1002/ajmg.a.36059
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- Publication type:
- Article
Replacement of the C6ORF66 Assembly Factor (NDUFAF4) Restores Complex I Activity in Patient Cells.
- Published in:
- Molecular Medicine, 2013, v. 19, n. 2, p. 124, doi. 10.2119/molmed.2012.00343
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- Publication type:
- Article
Rat Cardiac Mitochondrial Sub-populations Show Distinct Features of Oxidative Phosphorylation during Ischemia, Reperfusion and Ischemic Preconditioning.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2012, v. 30, n. 1, p. 83, doi. 10.1159/000339043
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- Publication type:
- Article
Rat Cardiac Mitochondrial Sub-populations Show Distinct Features of Oxidative Phosphorylation during Ischemia, Reperfusion and Ischemic Preconditioning.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2012, v. 29, n. 5/6, p. 83, doi. 10.1159/000339043
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- Publication type:
- Article
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 125, doi. 10.1007/s10545-011-9348-y
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- Publication type:
- Article
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 69, doi. 10.1186/1750-1172-7-69
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- Publication type:
- Article
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
- Published in:
- 2012
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- Publication type:
- journal article
Screening for Active Small Molecules in Mitochondrial Complex I Deficient Patient's Fibroblasts, Reveals AICAR as the Most Beneficial Compound.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026883
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- Publication type:
- Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
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- Publication type:
- Article
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
- Published in:
- Lipids in Health & Disease, 2011, v. 10, n. 1, p. 84, doi. 10.1186/1476-511X-10-84
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- Publication type:
- Article
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1160, doi. 10.1038/ejhg.2010.83
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- Publication type:
- Article
The Effect of Antiepileptic Drugs on Mitochondrial Activity: A Pilot Study.
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- Journal of Child Neurology, 2010, v. 25, n. 5, p. 541, doi. 10.1177/0883073809352888
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- Publication type:
- Article
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1200, doi. 10.1038/ejhg.2009.24
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- Publication type:
- Article
Mice Deficient in Ribosomal Protein S6 Phosphorylation Suffer from Muscle Weakness that Reflects a Growth Defect and Energy Deficit.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005618
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- Publication type:
- Article