scispace - formally typeset
M

Marcela Votruba

Researcher at Cardiff University

Publications -  111
Citations -  11882

Marcela Votruba is an academic researcher from Cardiff University. The author has contributed to research in topics: Optic nerve & Atrophy. The author has an hindex of 31, co-authored 106 publications receiving 10210 citations. Previous affiliations of Marcela Votruba include Moorfields Eye Hospital & University of Bordeaux.

Papers
More filters
Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy

Daniel J. Klionsky, +1287 more
- 01 Apr 2012 - 
TL;DR: These guidelines are presented for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
Journal ArticleDOI

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, +61 more
- 16 Nov 2001 - 
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
Journal ArticleDOI

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Christiane Alexander, +12 more
- 01 Oct 2000 - 
TL;DR: 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.
Journal ArticleDOI

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

Vanessa J. Davies, +9 more
- 01 Jun 2007 - 
TL;DR: Findings indicate that the opa1 GTPase contains crucial information required for the survival of RGCs and that Opa1 is essential for early embryonic survival.
Journal ArticleDOI

Multi-system neurological disease is common in patients with OPA1 mutations

Patrick Yu-Wai-Man, +40 more
- 01 Mar 2010 - 
TL;DR: It is shown that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers, and careful surveillance is mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.