Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells

Otera, H., Wang, C., Cleland, M. M., Setoguchi, K., Yokota, S., Youle, R. J., & Mihara, K. (2010) · Journal of Cell Biology · doi:10.1083/jcb.201007152 · Cited by 1,110 · see citing works

The Novel Tail-anchored Membrane Protein Mff Controls Mitochondrial and Peroxisomal Fission in Mammalian Cells

Gandre-Babbe, S., & van der Bliek, A. M. (2008) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-12-1287 · Cited by 769 · see citing works

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Waterham, H. R., Koster, J., van Roermund, C. W. T., Mooyer, P. A. W., Wanders, R. J. A., & Leonard, J. V. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa064436 · Cited by 749 · see citing works

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · see citing works

Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases

Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132531 · Cited by 554 · see citing works

Evolution of the Molecular Machines for Protein Import into Mitochondria

Doležal, P., Likić, V. A., Tachezy, J., & Lithgow, T. J. (2006) · Science · doi:10.1126/science.1127895 · Cited by 549 · see citing works

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Calvo, S. E., Tucker, E. J., Compton, A. G., Kirby, D. M., Crawford, G., Burtt, N. P., Rivas, M. A., Guiducci, C., Bruno, D. L., Goldberger, O., et al. (2010) · Nature Genetics · doi:10.1038/ng.659 · Cited by 362 · see citing works

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

Rötig, A., Appelkvist, E., Géromel, V., Chrétien, D., Kadhom, N., Edery, P., Bideau, M. L., Dallner, G., Münnich, A., Ernster, L., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02531-9 · Cited by 354 · see citing works

Systematic identification of human mitochondrial disease genes through integrative genomics

Calvo, S. E., Jain, M., Xie, X. S., Sheth, S. A., Chang, B., Goldberger, O., Spinazzola, A., Zeviani, M., Carr, S. A., & Mootha, V. K. (2006) · Nature Genetics · doi:10.1038/ng1776 · Cited by 344 · see citing works

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Edvardson, S., Shaag, A., Kolesnikova, O. A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/521227 · Cited by 336 · see citing works

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S., & Saada, A. (2005) · American Journal of Human Genetics · doi:10.1086/430843 · Cited by 323 · see citing works

The regulation of mitochondrial morphology: Intricate mechanisms and dynamic machinery

Palmer, C. S., Osellame, L. D., Stojanovski, D., & Ryan, M. T. (2011) · Cellular Signalling · doi:10.1016/j.cellsig.2011.05.021 · Cited by 280 · see citing works

Mitochondrial disease criteria

Morava, É., van den Heuvel, L. P., Hol, F. A., de Vries, M. C., Hogeveen, M., Rodenburg, R. J., & Smeitink, J. A. M. (2006) · Neurology · doi:10.1212/01.wnl.0000244435.27645.54 · Cited by 275 · see citing works

Mitochondrial disorders: prevalence, myths and advances

Thorburn, D. R. (2004) · Journal of Inherited Metabolic Disease · doi:10.1023/b:boli.0000031098.41409.55 · Cited by 258 · see citing works

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Götz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyötyläinen, T., Ojala, T. H., Hämäläinen, R. H., Tommiska, J., Raivio, T., Orešič, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.006 · Cited by 257 · see citing works

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., Böhm, D., Uziel, G., Lamantea, E., Invernizzi, F., Poulton, J., et al. (2010) · Nature Genetics · doi:10.1038/ng.706 · Cited by 251 · see citing works

Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders

Smeitink, J. A. M., Zeviani, M., Turnbull, D. M., & Jacobs, H. T. (2006) · Cell Metabolism · doi:10.1016/j.cmet.2005.12.001 · Cited by 242 · see citing works

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Riley, L. G., Cooper, S. T., Hickey, P. F., Rudinger‐Thirion, J., McKenzie, M., Compton, A. G., Lim, S. C., Thorburn, D. R., Ryan, M. T., Giegé, R., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.001 · Cited by 240 · see citing works

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Zeharia, A., Shaag, A., Pappo, O., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.08.004 · Cited by 228 · see citing works

Neuroradiologic findings in children with mitochondrial disorders.

Valanne, L. K., Ketonen, L., Majander, A. S., et al. (1998) · PubMed · Cited by 195 · see citing works

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Aldahmesh, M. A., Mohamed, J. Y., Alkuraya, H., Verma, I. C., Puri, R. D., Alaiya, A. A., Rizzo, W. B., & Alkuraya, F. S. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.011 · Cited by 186 · see citing works

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Belostotsky, R., Ben‐Shalom, E., Rinat, C., Becker‐Cohen, R., Feinstein, S., Zeligson, S., Segel, R., Elpeleg, O. N., Nassar, S. M., & Frishberg, Y. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.12.010 · Cited by 185 · see citing works

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Tucker, E. J., Hershman, S. G., Köhrer, C., Belcher-Timme, C. A., Patel, J., Goldberger, O., Christodoulou, J., Silberstein, J. M., McKenzie, M., Ryan, M. T., et al. (2011) · Cell Metabolism · doi:10.1016/j.cmet.2011.07.010 · Cited by 176 · see citing works

Human diseases with impaired mitochondrial protein synthesis

Rötig, A. (2011) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2011.06.010 · Cited by 142 · see citing works

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Shaheen, R., Faqeih, E., Sunker, A., Morsy, H., Al‐Sheddi, T., Shamseldin, H. E., Adly, N., Hashem, M., & Alkuraya, F. S. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.07.009 · Cited by 136 · see citing works

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Gerards, M., van den Bosch, B. J. C., Danhauser, K., Serre, V., van Weeghel, M., Wanders, R. J. A., Nicolaes, G. A. F., Sluiter, W. J., Schoonderwoerd, K. C., Scholte, H. R., et al. (2010) · Brain · doi:10.1093/brain/awq273 · Cited by 131 · see citing works

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

Alkuraya, F. S. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ceb95d · Cited by 129 · see citing works

Autozygome decoded

Alkuraya, F. S. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181fbfcc4 · Cited by 107 · see citing works

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Smits, P., Saada, A., Wortmann, S. B., Heister, A. J. G. M., Brink, M., Pfundt, R., Miller, C., Haas, D., Hantschmann, R., Rodenburg, R. J., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.214 · Cited by 105 · see citing works

Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

Safieh, L. A., Aldahmesh, M. A., Shamseldin, H. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.070755 · Cited by 87 · see citing works

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh, M. A., Abu‐Safieh, L., Alkuraya, H., Al‐Rajhi, A. A., Shamseldin, H. E., Hashem, M., Alzahrani, F., Khan, A. O., Alqahtani, F., Rahbeeni, Z. A., et al. (2009) · PubMed Central · Cited by 82 · see citing works

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy

Perli, E., Giordano, C., Tuppen, H. A. L., Montopoli, M., Montanari, A., Orlandi, M., Pisano, A., Catanzaro, D., Caparrotta, L., Musumeci, B., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr440 · Cited by 75 · see citing works

The tRNA-Induced Conformational Activation of Human Mitochondrial Phenylalanyl-tRNA Synthetase

Klipcan, L., Levin, I., Kessler, N., Moor, N. A., Finarov, I., & Safro, M. G. (2008) · Structure · doi:10.1016/j.str.2008.03.020 · Cited by 57 · see citing works

Mitochondrial disorders: Clinical presentation and diagnostic dilemmas

Smeitink, J. A. M. (2003) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1024489218004 · Cited by 51 · see citing works

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

Shaheen, R., Al-Dirbashi, O., Al‐Hassnan, Z. N., Al‐Owain, M. A., Makhsheed, N., Basheeri, F., Seidahmed, M. Z., Salih, M., Faqih, E., Zaidan, H., et al. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01498.x · Cited by 19 · see citing works

The cell biology of mitochondrial membrane dynamics

Giacomello, M., Pyakurel, A., Glytsou, C., & Scorrano, L. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0210-7 · Cited by 1,550 · see citing works

Mitochondrial Dynamics and Its Involvement in Disease

Chan, D. C. (2020) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012419-032711 · Cited by 1,416 · see citing works

The Peroxisome-Mitochondria Connection: How and Why?

Fransen, M., Lismont, C., & Walton, P. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18061126 · Cited by 351 · see citing works

The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass

Romanello, V., & Sandri, M. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03662-0 · Cited by 197 · see citing works

Titration of mitochondrial fusion rescues <i>Mff</i> -deficient cardiomyopathy

Chen, H., Ren, S., Clish, C., Jain, M., Mootha, V., McCaffery, J. M., & Chan, D. C. (2015) · Journal of Cell Biology · doi:10.1083/jcb.201507035 · Cited by 168 · see citing works

Organelle interplay-peroxisome interactions in health and disease.

Schrader, M., Kamoshita, M., & Islinger, M. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12083 · Cited by 149 · see citing works

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Koch, J., Feichtinger, R. G., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J. A., Prokisch, H., & Haack, T. B. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103500 · Cited by 127 · see citing works

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Bartsakoulia, M., Pyle, A., Troncoso-Chandía, D., Vial-Brizzi, J., Paz-Fiblas, M. V., Duff, J., Griffin, H., Boczonadi, V., Lochmüller, H., Kleinle, S., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy033 · Cited by 68 · see citing works

The GENCODE exome: sequencing the complete human exome

Coffey, A. J., Kokocinski, F., Calafato, M., Scott, C., Palta, P., Drury, E., Joyce, C. J., LeProust, E. M., Harrow, J., Hunt, S. E., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.28 · Cited by 64 · see citing works

P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband

Pilchman, L., Coleman, B. G., Fisher, A., et al. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100679

Pooled-parent exome sequencing to prioritise de novo variants in genetic diseasePreprint

Dashnow, H., Bell, K. M., Stark, Z., Tan, T. Y., White, S. M., & Oshlack, A. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/601740 · Cited by 1 · see citing works

Clinical Exome Performance for Reporting Secondary Genetic Findings

Park, J. Y., Clark, P., Londin, E. R., Sponziello, M., Kricka, L. J., & Fortina, P. M. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2014.231456 · Cited by 37 · see citing works

Exome Sequencing in Mendelian Disorders

Lee, J. (2010) · Journal of genetic medicine · doi:10.5734/jgm.2010.7.2.119 · Cited by 1 · see citing works