Now showing items 1-4 of 4
The Cellular Phenotype of the Neurodegenerative Disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
(Queen Mary University of London, 2014-09)
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early onset neurodegenerative disorder resulting from mutations in the SACS gene that encodes the protein sacsin. Sacsin is a 520kDa multi-domain ...
Modification of splicing with antisense oligonucleotides in the Insulin receptor exon 11 and Apolipoprotein B exon 26.
(Queen Mary University of London, 2012)
Background - The alternatively spliced insulin receptor (IR) exon 11 (36 nucleotides) and the constitutively spliced Apolipoprotein B (APOB) exon 26 (7572 nucleotides) are examples of the shortest and longest exons in ...
The role of the aryl hydrocarbon receptor interacting protein (AIP) in pituitary tumorigenesis: A proteomic approach for explaining the clinical behaviour of AIP mutation-associated pituitary adenomas
(Queen Mary University of London, 2015-09-04)
A subset of familial and sporadic pituitary adenomas is due to germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP). A systematic follow-up of cases and families with AIP mutation ...
Investigation of the genetic aetiology and pathogenetic mechanism of disease in patients with late-onset FGD
(Queen Mary University of London, 2013)
Familial Glucocorticoid Deficiency (FGD) is an autosomal recessive form of adrenal failure characterized by isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. I studied two cohorts of patients ...