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Ophthalmic Genetics Volume 22, 2001 - Issue 4
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Research Article

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

Lisbeth Tranebjærg Departments of Medical Genetics
,
Peter K.A. Jensen Departments of Medical Genetics
,
Marijke Van Ghelue Departments of Medical Genetics
,
Cindy L. Vnencak-Jones Departments of Medical Genetics
,
Staale Sund Departments of Medical Genetics
,
Kjell Elgjo Departments of Medical Genetics
,
Johannes Jakobsen Departments of Medical Genetics
,
Sigurd Lindal Departments of Clinical Genetics
,
Mette Warburg Departments of Medical Genetics
,
Anders Fuglsang-Frederiksen Departments of Medical Genetics
&
Kari Skullerud Departments of Medical Genetics
 show all
Pages 207-223 | Published online: 08 Jul 2009

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Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O’Neill, Jonathan G Crowston & Ian A Trounce. (2011) Mitochondrial disorders and the eye. Eye and Brain 3, pages 29-47.
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Valerie B Thompson, H A Jinnah & Ellen J Hess. (2011) Convergent mechanisms in etiologically-diverse dystonias. Expert Opinion on Therapeutic Targets 15:12, pages 1387-1403.
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Oana Vele & Iris Schrijver. (2008) Inherited hearing loss: molecular genetics and diagnostic testing. Expert Opinion on Medical Diagnostics 2:3, pages 231-248.
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Liang Wang, Ziyun Yang, Xiumei He, Shiming Pu, Cheng Yang, Qiong Wu, Zuping Zhou, Xiaobo Cen & Hongxia Zhao. (2022) Mitochondrial protein dysfunction in pathogenesis of neurological diseases. Frontiers in Molecular Neuroscience 15.
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Ruairidh Edwards, Ross Eaglesfield & Kostas Tokatlidis. (2021) The mitochondrial intermembrane space: the most constricted mitochondrial sub-compartment with the largest variety of protein import pathways. Open Biology 11:3.
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Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto & Richard Steet. (2020) Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome . Molecular Genetics & Genomic Medicine 8:3.
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Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan & Qiuju Wang. (2019) Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. BMC Medical Genetics 20:1.
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Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud & Diana Stojanovski. (2019) Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. eLife 8.
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Thea HeinemeyerMonique StemmetSoraya BardienAnnika Neethling. (2019) Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease. DNA and Cell Biology 38:1, pages 23-40.
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Stacy L. Pineles & Laura J. Balcer. 2019. Liu, Volpe, and Galetta's Neuro-Ophthalmology. Liu, Volpe, and Galetta's Neuro-Ophthalmology 101 196 .
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni & Valerio Carelli. (2016) A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132:6, pages 789-806.
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Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien, Xavier Gérard, Patrizia Amati-Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kaminska, Isabelle Desguerre, Jeanne Amiel, Marlène Rio, Josseline Kaplan, Arnold Munnich, Agnès Rötig, Jean Michel Rozet & Claude Besmond. (2014) Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. Journal of Medical Genetics 51:12, pages 834-838.
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Yingtian Deng, Wenxuan Zou, Gang Li & Jie Zhao. (2014) TRANSLOCASE OF THE INNER MEMBRANE9 and 10 Are Essential for Maintaining Mitochondrial Function during Early Embryo Cell and Endosperm Free Nucleus Divisions in Arabidopsis      . Plant Physiology 166:2, pages 853-868.
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Kamal Ahmed Abou-Elhamd, Hesham Mohamed ElToukhy & Fahad Abdullah Al-Wadaani. (2013) Syndromes of hearing loss associated with visual loss. European Archives of Oto-Rhino-Laryngology 271:4, pages 635-646.
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Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino & Valerio Carelli. (2013) The optic nerve: A “mito-window” on mitochondrial neurodegeneration. Molecular and Cellular Neuroscience 55, pages 62-76.
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Lisbeth Tranebjærg. 2013. Mitochondrial Disorders Caused by Nuclear Genes. Mitochondrial Disorders Caused by Nuclear Genes 337 366 .
Ainhi D. Ha, Kaitlyn L. Parratt, Nanna D. Rendtorff, Marianne Lodahl, Karl Ng, Dominic B. Rowe, Carolyn M. Sue, Michael W. Hayes, Lisbeth Tranebjærg & Victor S.C. Fung. (2012) The phenotypic spectrum of dystonia in Mohr–Tranebjaerg syndrome. Movement Disorders 27:8, pages 1034-1040.
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Ruth H. Walker, Kevin St. P. McNaught & Daniel P. Perl. 2012. Handbook of Dystonia. Handbook of Dystonia 74 100 .
Gertraud Engl, Stefan Florian, Lisbeth Tranebjærg & Doron Rapaport. (2012) Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Human Molecular Genetics 21:2, pages 287-299.
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Kristin Pietschmann, Marc Buchwald, Sylvia Müller, Shirley K. Knauer, Manfred Kögl, Thorsten Heinzel & Oliver H. Krämer. (2012) Differential regulation of PML–RARα stability by the ubiquitin ligases SIAH1/SIAH2 and TRIAD1. The International Journal of Biochemistry & Cell Biology 44:1, pages 132-138.
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Patrick Yu-Wai-Man, Philip G. Griffiths & Patrick F. Chinnery. (2011) Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies. Progress in Retinal and Eye Research 30:2, pages 81-114.
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Andreas Moustris, Mark J. Edwards & Kailash P. Bhatia. 2011. Hyperkinetic Movement Disorders. Hyperkinetic Movement Disorders 173 192 .
Sarah E. Calvo & Vamsi K. Mootha. (2010) The Mitochondrial Proteome and Human Disease. Annual Review of Genomics and Human Genetics 11:1, pages 25-44.
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JoAnn McGee & Edward J. Walsh. 2010. Cummings Otolaryngology - Head and Neck Surgery. Cummings Otolaryngology - Head and Neck Surgery 2049 2085 .
Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N. Ross-Cisneros & Alfredo A. Sadun. (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1787:5, pages 518-528.
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José Rafael Blesa, Abelardo Solano, Paz Briones, Jesús Angel Prieto-Ruiz, José Hernández-Yago & Francisco Coria. (2007) Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene. NeuroMolecular Medicine 9:4, pages 285-291.
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Hee T. Kim, Mark J. Edwards, Jess Tyson, Niall P. Quinn, Maria Bitner‐Glindzicz & Kailash P. Bhatia. (2007) Blepharospasm and limb dystonia caused by Mohr‐Tranebjaerg syndrome with a novel splice‐site mutation in the deafness/dystonia peptide gene. Movement Disorders 22:9, pages 1328-1331.
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Fayez BahmadJrJr, Saumil N. Merchant, Joseph B. NadolJrJr & Lisbth Tranebjærg. (2009) Otopathology in Mohr‐Tranebjærg Syndrome. The Laryngoscope 117:7, pages 1202-1208.
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Kumar S.D. Kothapalli, Joshua C. Anthony, Bruce S. Pan, Andrea T. Hsieh, Peter W. Nathanielsz & J. Thomas Brenna. (2007) Differential Cerebral Cortex Transcriptomes of Baboon Neonates Consuming Moderate and High Docosahexaenoic Acid Formulas. PLoS ONE 2:4, pages e370.
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Milena Penkowa, Mario Cáceres, Rehannah Borup, Finn Cilius Nielsen, Christian Bjørn Poulsen, Albert Quintana, Amalia Molinero, Javier Carrasco, Sergi Florit, Mercedes Giralt & Juan Hidalgo. (2006) Novel roles for metallothionein‐I + II (MT‐I + II) in defense responses, neurogenesis, and tissue restoration after traumatic brain injury: Insights from global gene expression profiling in wild‐type and MT‐I + II knockout mice. Journal of Neuroscience Research 84:7, pages 1452-1474.
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Ruth H. Walker, Kevin StP. McNaught & Daniel P. Perl. 2006. Handbook of Dystonia. Handbook of Dystonia 65 92 .
Luis A. Aguirre, Ignacio del Castillo, Alfons Macaya, Carme Medá, Manuela Villamar, Miguel A. Moreno‐Pelayo & Felipe Moreno. (2006) A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness‐dystonia (Mohr–Tranebjaerg) syndrome. American Journal of Medical Genetics Part A 140A:4, pages 392-397.
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John Shoffner. 2005. Mitochondria in Health and Disease. Mitochondria in Health and Disease 247 300 .
Sabine Hofmann & Matthias F. Bauer. 2004. Mitochondrial Function and Biogenesis. Mitochondrial Function and Biogenesis 201 225 .
Craig Blackstone, Roland G Roberts, Daniel P Seeburg & Morgan Sheng. (2003) Interaction of the deafness–dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1. Biochemical and Biophysical Research Communications 305:2, pages 345-352.
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