S
Sophia-Martha Kleine Holthaus
Researcher at UCL Institute of Ophthalmology
Publications - Â 11
Citations - Â 517
Sophia-Martha Kleine Holthaus is an academic researcher from UCL Institute of Ophthalmology. The author has contributed to research in topics: Batten disease & Neurodegeneration. The author has an hindex of 9, co-authored 11 publications receiving 380 citations. Previous affiliations of Sophia-Martha Kleine Holthaus include University College London.
Papers
More filters
Journal ArticleDOI
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
Sara E. Mole,Glenn Anderson,Heather A Band,Samuel F. Berkovic,Jonathan D. Cooper,Sophia-Martha Kleine Holthaus,Tristan R. McKay,Diego L. Medina,Ahad A. Rahim,Angela Schulz,Alexander J. Smith +10 more
TL;DR: The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression and efforts are underway to make similar progress for other forms of the disorder.
Journal ArticleDOI
Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179
Koji Nishiguchi,Livia S. Carvalho,Matteo Rizzi,Kate Powell,Sophia-Martha Kleine Holthaus,Selina A. Azam,Yanai Duran,Joana Ribeiro,Ulrich F O Luhmann,James W B Bainbridge,Alexander J. Smith,Robin R. Ali +11 more
TL;DR: Gene replacement in rd1 mice that are devoid of the mutation in Gpr179 successfully restores the function of both photoreceptors and bipolar cells, which is maintained for up to 13 months.
Journal ArticleDOI
Use of model organisms for the study of neuronal ceroid lipofuscinosis
Michael Bond,Sophia-Martha Kleine Holthaus,Sophia-Martha Kleine Holthaus,Imke Tammen,Guy Tear,Claire Russell +5 more
TL;DR: The ethical issues associated with experiments using model organisms, the factors underlying the choice of model organism, the disease models and genetic tools available, and the contributions of those models and tools to neuronal ceroid lipofuscinosis research are discussed.
Journal ArticleDOI
Assessment of AAV Vector Tropisms for Mouse and Human Pluripotent Stem Cell-Derived RPE and Photoreceptor Cells.
Anai Gonzalez-Cordero,Debbie Goh,Kamil Kruczek,Arifa Naeem,Milan Fernando,Sophia-Martha Kleine Holthaus,Matsuki Takaaki,Samuel J.I. Blackford,Magdalena Kloc,Leticia Agundez,Robert D. Sampson,Shyamanga Borooah,Patrick Ovando-Roche,Manjit S Mehat,Emma L. West,Alexander J. Smith,Rachael A. Pearson,Robin R. Ali +17 more
TL;DR: It is shown that human embryonic stem cell-derived photoreceptors can be used to establish promoter specificity in human cells in vitro and will aid capsid selection and vector design for preclinical evaluation of gene therapy approaches, such as gene editing, that require the use of human cells and tissues.
Journal ArticleDOI
The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors
Ulrich F O Luhmann,Livia S. Carvalho,Sophia-Martha Kleine Holthaus,Jill A. Cowing,Simon Greenaway,Colin J Chu,Philipp Herrmann,Alexander J. Smith,Peter M. G. Munro,Paul Potter,James W B Bainbridge,Robin R. Ali +11 more
TL;DR: Insight is provided into the nature of the retinal vascular lesions that likely represent a clinical correlate for the formation of retinal telangiectasia or Coats-like vasculopathy in patients with CRB1 mutations that are thought to depend on such genetic modifiers.