Ahad A. Rahim
University College London
Publications 109
Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson’s disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage disorder, which may involve severe neurodegeneration. We have previously demonstrated impaired autophagy and proteasomal degradation pathways and mitochondrial dysfunction in neurons from GBA1 knockout (gba1−/−) mice. We now show that stimulation with physiological glutamate concentration...
#1Sophia-Martha kleine Holthaus (UCL Institute of Ophthalmology)H-Index: 6
#2Saul Herranz-Martin (UCL: University College London)
Last.Robin R. Ali (UCL Institute of Ophthalmology)H-Index: 58
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Fabry disease (FD) is caused by mutations in the GLA gene that encodes lysosomal α-galactosidase-A (α-gal-A). A number of pathogenic mechanisms have been proposed and these include loss of mitochondrial respiratory chain activity. For FD, gene therapy is beginning to be applied as a treatment. In view of the loss of mitochondrial function reported in FD, we have considered here the impact of loss of mitochondrial respiratory chain activity on the ability of a GLA lentiviral vector to increase ce...
#1Arnaud Ruiz (UCL: University College London)H-Index: 13
#2Ahad A. Rahim (UCL: University College London)H-Index: 18
#1Albert Snowball (UCL: University College London)H-Index: 3
#2Elodie Chabrol (UCL: University College London)H-Index: 4
Last.Stephanie Schorge (UCL: University College London)H-Index: 22
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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 involves irreversible changes to brain tissue, so vector design must be carefully optimized to guarantee safety without compromising efficacy. We set out to develop an epilepsy gene therapy vector optimized for clinical translation. The gene encoding the voltage-gated potassium channel Kv1.1, KCNA1, was codon o...
4 CitationsSource
#1Sara E. Mole (UCL: University College London)H-Index: 38
#2Glenn Anderson (GOSH: Great Ormond Street Hospital)H-Index: 18
Last.Alexander J. Smith (UCL Institute of Ophthalmology)H-Index: 32
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Summary 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 inherited neurodegenerative and life-limiting disorders that affect children. Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms u...
7 CitationsSource
#1Julien Baruteau (UCL: University College London)H-Index: 7
#2Dany P. Perocheau (UCL: University College London)H-Index: 5
Last.Simon N. Waddington (UCL: University College London)H-Index: 40
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Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment despite treatment aiming to normalise ammonaemia without considering NO imbalance. Here we show that cerebral disease in argininosuccinic aciduria involves neuronal oxidative/nitrosative stress independent of hyperammo...
3 CitationsSource
#1Eridan Rocha-Ferreira (UCL: University College London)H-Index: 10
#2Laura Poupon (UCL: University College London)H-Index: 1
Last.Ahad A. Rahim (UCL: University College London)H-Index: 18
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4 CitationsSource
#1John R. Counsell (UCL: University College London)H-Index: 4
#2Rajvinder Karda (UCL: University College London)H-Index: 5
Last.Steven J. Howe (UCL: University College London)H-Index: 25
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Viral vectors are rapidly being developed for a range of applications in research and gene therapy. Prototype foamy virus (PFV) vectors have been described for gene therapy, although their use has mainly been restricted to ex vivo stem cell modification. Here we report direct in vivo transgene delivery with PFV vectors carrying reporter gene constructs. In our investigations, systemic PFV vector delivery to neonatal mice gave transgene expression in the heart, xiphisternum, liver, pancreas, and ...
1 CitationsSource