User profiles for Ahad A Rahim

Ahad Rahim

University College London
Verified email at ucl.ac.uk
Cited by 3048

[PDF][PDF] Mitochondria and quality control defects in a mouse model of Gaucher disease—links to Parkinson's disease

LD Osellame, AA Rahim, IP Hargreaves, ME Gegg… - Cell metabolism, 2013 - cell.com
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most
common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD). …

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

…, TR McKay, DL Medina, AA Rahim… - The Lancet …, 2019 - thelancet.com
Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the
start of a new era because of diagnostic and therapeutic advances relevant to this group of …

Fetal gene therapy for neurodegenerative disease of infants

…, JKY Chan, SH Cheng, SN Waddington, AA Rahim - Nature medicine, 2018 - nature.com
For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against
early, irreversible and lethal pathological change. To explore this, we studied neuronopathic …

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

…, T Björklund, RR Ali, M Agbandje-McKenna, AA Rahim… - Brain, 2018 - academic.oup.com
Recombinant adeno-associated viruses (AAVs) are popular in vivo gene transfer vehicles.
However, vector doses needed to achieve therapeutic effect are high and some target tissues …

Epilepsy gene therapy using an engineered potassium channel

…, A Lieb, MP Hughes, G Massaro, AA Rahim… - Journal of …, 2019 - Soc Neuroscience
Refractory focal epilepsy is a devastating disease for which there is frequently no effective
treatment. Gene therapy represents a promising alternative, but treating epilepsy in this way …

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system

AA Rahim, AMS Wong, K Hoefer… - The FASEB …, 2011 - Wiley Online Library
Several diseases of the nervous system are characterized by neurodegeneration and death
in childhood. Conventional medicine is ineffective, but fetal or neonatal gene therapy may …

[HTML][HTML] β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology

…, A Shen, K Uhl, CM Walden, AA Rahim… - Journal of Biological …, 2013 - ASBMB
β-Glucosidase 2 (GBA2) is an enzyme that cleaves the membrane lipid glucosylceramide
into glucose and ceramide. The GBA2 gene is mutated in genetic neurological diseases (…

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann–Pick type C1 disease

…, SN Waddington, FM Platt, AA Rahim - Human Molecular …, 2018 - academic.oup.com
Niemann–Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage
disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an …

[HTML][HTML] Using stem cells to grow artificial tissue for peripheral nerve repair

KS Bhangra, F Busuttil, JB Phillips, AA Rahim - Stem cells …, 2016 - hindawi.com
Peripheral nerve injury continues to pose a clinical hurdle despite its frequency and advances
in treatment. Unlike the central nervous system, neurons of the peripheral nervous system …

Delineating pathological pathways in a chemically induced mouse model of Gaucher disease

…, R Eilam, BM Kenwood, AA Rahim… - The Journal of …, 2016 - Wiley Online Library
Great interest has been shown in understanding the pathology of Gaucher disease ( GD ) due
to the recently discovered genetic relationship with Parkinson's disease. For such studies, …