Found: 101
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Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
- Published in:
- Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035
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- Publication type:
- Article
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution.
- Published in:
- PLoS Computational Biology, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pcbi.1011090
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- Publication type:
- Article
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
- Published in:
- Neurogenetics, 2015, v. 16, n. 4, p. 319, doi. 10.1007/s10048-015-0444-2
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- Publication type:
- Article
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
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- Neurogenetics, 2015, v. 16, n. 3, p. 237, doi. 10.1007/s10048-015-0440-6
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- Publication type:
- Article
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- PLoS Biology, 2019, v. 17, n. 10, p. 1, doi. 10.1371/journal.pbio.3000520
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- Publication type:
- Article
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- PLoS Biology, 2019, v. 17, n. 9, p. 1, doi. 10.1371/journal.pbio.3000414
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- Publication type:
- Article
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- PLoS Biology, 2019, v. 17, n. 8, p. 1, doi. 10.1371/journal.pbio.3000414
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- Publication type:
- Article
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304520
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- Publication type:
- Article
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6356, doi. 10.1093/hmg/ddu357
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- Publication type:
- Article
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 949, doi. 10.1093/hmg/ddt490
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- Publication type:
- Article
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 15, p. 3138, doi. 10.1093/hmg/ddt170
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- Publication type:
- Article
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276
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- Publication type:
- Article
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11600, doi. 10.1038/ncomms11600
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- Publication type:
- Article
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80
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- Publication type:
- Article
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
- Published in:
- 2020
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- Publication type:
- journal article
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
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- Publication type:
- Article
Mutations in RARS cause hypomyelination.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
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- Publication type:
- Article
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247
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- Publication type:
- Article
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13484, doi. 10.3390/ijms222413484
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- Publication type:
- Article
DTYMK is essential for genome integrity and neuronal survival.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Publication type:
- Article
4-Hydroxybenzoic acid restores CoQ<sub>10</sub> biosynthesis in human COQ2 deficiency.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 902, doi. 10.1002/acn3.486
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- Publication type:
- Article
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 462, doi. 10.1002/acn3.73
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- Publication type:
- Article
Mutations in NSUN3 , a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
- Published in:
- 2024
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- Publication type:
- Case Study
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1028, doi. 10.3390/genes11091028
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- Publication type:
- Article
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356
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- Publication type:
- Article
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131
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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
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
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- Publication type:
- Article
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208
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- Publication type:
- Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
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- Publication type:
- Article
Functional consequences of mitochondrial tRNA<sup>Trp</sup> and tRNA<sup>Arg</sup> mutations causing combined OXPHOS defects.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169
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- Publication type:
- Article
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735
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- Publication type:
- Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
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- Publication type:
- Article
Characterisation of an Adult Zebrafish Model for SDHB -Associated Phaeochromocytomas and Paragangliomas.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7262, doi. 10.3390/ijms25137262
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- Publication type:
- Article
Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome <i>b</i> Protein Expression.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004034
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- Publication type:
- Article
Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone.
- Published in:
- International Journal of COPD, 2006, v. 1, n. 1, p. 83, doi. 10.2147/copd.2006.1.1.83
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- Publication type:
- Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
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- Publication type:
- Article
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
- Published in:
- Metabolomics, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11306-020-01769-w
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- Publication type:
- Article
Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function.
- Published in:
- 2018
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- Publication type:
- journal article
Development of subdural effusions in association with pyruvate dehydrogenase deficiency.
- Published in:
- 2005
- By:
- Publication type:
- case study
New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
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- Publication type:
- Article
Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068340
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- Publication type:
- Article
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03094-0
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- Publication type:
- Article
Enhanced number and activity of mitochondria in multiple sclerosis lesions.
- Published in:
- Journal of Pathology, 2009, v. 219, n. 2, p. 193, doi. 10.1002/path.2582
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- Publication type:
- Article
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex- I deficiency.
- Published in:
- Proteomics, 2012, v. 12, n. 9, p. 1349, doi. 10.1002/pmic.201100326
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- Publication type:
- Article
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
- Published in:
- Proteomics, 2009, v. 9, n. 17, p. 4221, doi. 10.1002/pmic.200900157
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- Publication type:
- Article
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
- Published in:
- Stem Cell Research & Therapy, 2017, v. 8, p. 1, doi. 10.1186/s13287-017-0601-7
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- Publication type:
- Article