|Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome|
V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ...
The American Journal of Human Genetics 83 (2), 170-179, 2008
|SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder|
V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy, SL Bielas, L Lehle, ...
Cell 142 (2), 203-217, 2010
|Membrane targeting of Rab GTPases is influenced by the prenylation motif|
AQ Gomes, BR Ali, JS Ramalho, RF Godfrey, DC Barral, AN Hume, ...
Molecular biology of the cell 14 (5), 1882-1899, 2003
|Multiple regions contribute to membrane targeting of Rab GTPases|
BR Ali, C Wasmeier, L Lamoreux, M Strom, MC Seabra
Journal of cell science 117 (26), 6401-6412, 2004
|Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia|
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
|The non-catalytic cellulose-binding domain of a novel cellulase from Pseudomonas fluorescens subsp. cellulosa is important for the efficient hydrolysis of Avicel|
J Hall, GW Black, LMA Ferreira, SJ Millward-Sadler, BRS Ali, ...
Biochemical Journal 309 (3), 749-756, 1995
|Cellulases and hemicellulases of the anaerobic fungus Piromyces constitute a multiprotein cellulose-binding complex and are encoded by multigene families|
BRS Ali, L Zhou, FM Graves, RB Freedman, GW Black, HJ Gilbert, ...
FEMS microbiology letters 125 (1), 15-21, 1995
|Rab GTPases containing a CAAX motif are processed post-geranylgeranylation by proteolysis and methylation|
KF Leung, R Baron, BR Ali, AI Magee, MC Seabra
Journal of Biological Chemistry 282 (2), 1487-1497, 2007
|Targeting of Rab GTPases to cellular membranes|
BR Ali, MC Seabra
Biochemical Society Transactions 33 (4), 652-656, 2005
|Faulty initiation of proteoglycan synthesis causes cardiac and joint defects|
S Baasanjav, L Al-Gazali, T Hashiguchi, S Mizumoto, B Fischer, D Horn, ...
The American Journal of Human Genetics 89 (1), 15-27, 2011
|A non-modular endo-β-1,4-mannanase from Pseudomonas fluorescens subspecies cellulosa|
KL Braithwaite, GW Black, GP Hazlewood, BRS Ali, HJ Gilbert
Biochemical Journal 305 (3), 1005-1010, 1995
|A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts|
GH Mochida, VS Ganesh, JM Felie, D Gleason, RS Hill, KR Clapham, ...
The American Journal of Human Genetics 87 (6), 882-889, 2010
|Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients|
BR Ali, H Xu, NA Akawi, A John, NS Karuvantevida, R Langer, L Al-Gazali, ...
Human molecular genetics 19 (11), 2239-2250, 2010
|Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)|
L Al‐Gazali, BR Ali
Human mutation 31 (5), 505-520, 2010
|ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome|
Y Chen, WP Bellamy, MC Seabra, MC Field, BR Ali
Human molecular genetics 14 (17), 2559-2569, 2005
|Preferential accumulation of regulatory T cells with highly immunosuppressive characteristics in breast tumor microenvironment|
ASS Khaja, SM Toor, H El Salhat, I Faour, NU Haq, BR Ali, E Elkord
Oncotarget 8 (20), 33159, 2017
|Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates|
FA Al-Jasmi, N Tawfig, A Berniah, BR Ali, M Taleb, JL Hertecant, F Bastaki, ...
JIMD Reports-Volume 10, 1-9, 2012
|Similar processes mediate glycopeptide export from the endoplasmic reticulum in mammalian cells and Saccharomyces cerevisiae|
K Römisch, BRS Ali
Proceedings of the National Academy of Sciences 94 (13), 6730-6734, 1997
|Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum|
BR Ali, S Jeffery, N Patel, LE Tinworth, N Meguid, MA Patton, AR Afzal
Human genetics 122 (3-4), 389-395, 2007
|Success stories in genomic medicine from resource-limited countries|
K Mitropoulos, H Al Jaibeji, DA Forero, P Laissue, A Wonkam, ...
Human Genomics 9 (1), 1-7, 2015