M Votruba

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. doi request reprint Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity
    Pete A Williams
    FRCOphth, Cardiff School of Optometry Vision Sciences, Maindy Road, Cardiff CF24 4LU, UK
    Brain 135:493-505. 2012
  2. ncbi request reprint Molecular genetic basis of primary inherited optic neuropathies
    M Votruba
    School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK
    Eye (Lond) 18:1126-32. 2004
  3. doi request reprint Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?
    P A Williams
    School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4LU, United Kingdom
    Vision Res 51:229-34. 2011
  4. pmc Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 87:48-53. 2003
  5. ncbi request reprint A review of primary hereditary optic neuropathies
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    J Inherit Metab Dis 26:209-27. 2003
  6. ncbi request reprint Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Hum Genet 102:79-86. 1998
  7. ncbi request reprint Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43, Bath Street, London EC1V 9EL, UK
    Mamm Genome 9:784-7. 1998
  8. ncbi request reprint OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    C Alexander
    Department of Molecular Genetics, Insititute of Ophthalmology, University College London, London, UK
    Nat Genet 26:211-5. 2000
  9. ncbi request reprint A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect
    D L Thiselton
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, EC1 V 9EL, UK
    Hum Genet 109:498-502. 2001

Collaborators

Detail Information

Publications9

  1. doi request reprint Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity
    Pete A Williams
    FRCOphth, Cardiff School of Optometry Vision Sciences, Maindy Road, Cardiff CF24 4LU, UK
    Brain 135:493-505. 2012
    ..These processes cast light on the intimate relationship between normal mitochondrial fusion and fission balances, as influenced by the OPA1 protein, in neural cell connectivity in the mammalian retina...
  2. ncbi request reprint Molecular genetic basis of primary inherited optic neuropathies
    M Votruba
    School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK
    Eye (Lond) 18:1126-32. 2004
    ..To review the molecular genetic basis of primary inherited optic neuropathies...
  3. doi request reprint Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?
    P A Williams
    School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4LU, United Kingdom
    Vision Res 51:229-34. 2011
    ..Here we summarise the current state of knowledge of the mechanisms of disease based on data from these models of Opa1 DOA...
  4. pmc Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 87:48-53. 2003
    ..A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus...
  5. ncbi request reprint A review of primary hereditary optic neuropathies
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    J Inherit Metab Dis 26:209-27. 2003
    ..It will also improve diagnosis, counselling and management of patients, and eventually lead to the development of new therapeutic modalities...
  6. ncbi request reprint Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Hum Genet 102:79-86. 1998
    ..86 (P < 0.0005, lambda = 0.4) occurred at D3S3669. On linkage disequilibrium multipoint analysis the maximum lod score of 8.01 is achieved at D3S1523, and 95% confidence intervals suggest that OPA1 lies within ca. 400 kb of D3S1523...
  7. ncbi request reprint Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY
    M Votruba
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43, Bath Street, London EC1V 9EL, UK
    Mamm Genome 9:784-7. 1998
    ..We have, therefore, excluded HRY as the gene for dominant optic atrophy by sequence analysis, mapped it genetically, and identified a polymorphism in our population...
  8. ncbi request reprint OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    C Alexander
    Department of Molecular Genetics, Insititute of Ophthalmology, University College London, London, UK
    Nat Genet 26:211-5. 2000
    ..The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity...
  9. ncbi request reprint A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect
    D L Thiselton
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, EC1 V 9EL, UK
    Hum Genet 109:498-502. 2001
    ....