Rose-Mary Boustany
Rose-Mary Boustany
Professor of Pediatrics and Adolescent Medicine, Biochemistry and Molecular Biology American University of Beirut
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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
H Gao, RMN Boustany, JA Espinola, SL Cotman, L Srinidhi, KA Antonellis, ...
The American Journal of Human Genetics 70 (2), 324-335, 2002
Lysosomal storage diseases—the horizon expands
RMN Boustany
Nature Reviews Neurology 9 (10), 583-598, 2013
Spectrum of mutations in the Batten disease gene, CLN3
PB Munroe, HM Mitchison, AM O'Rawe, JW Anderson, RM Boustany, ...
The American Journal of Human Genetics 61 (2), 310-316, 1997
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
DE Sleat, RM Gin, I Sohar, K Wisniewski, S Sklower-Brooks, RK Pullarkat, ...
The American Journal of Human Genetics 64 (6), 1511-1523, 1999
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
IK Svenson, AE Ashley-Koch, PC Gaskell, TJ Riney, WJK Cumming, ...
The American Journal of Human Genetics 68 (5), 1077-1085, 2001
Linkage of ‘pure’autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
A Hentati, MA Perlcak-Vance, WY Hung, S Belal, N Laing, RM Boustany, ...
Human molecular genetics 3 (8), 1263-1267, 1994
CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide
KL Puranam, WX Guo, WH Qian, K Nikbakht, RM Boustany
Molecular genetics and metabolism 66 (4), 294-308, 1999
Apoptosis as the mechanism of neurodegeneration in Batten's disease
SC Lane, RD Jolly, DE Schmechel, J Alroy, RM Boustany
Journal of neurochemistry 67 (2), 677-683, 1996
Isolation of a novel gene underlying Batten disease, CLN3
TJ Lerner, RMN Boustany, JW Anderson, KL D'Arigo, K Schlumpf, ...
Cell 82 (6), 949-957, 1995
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
RN Boustany, JR Aprille, J Halperin, H Levy
Annals of Neurology: Official Journal of the American Neurological …, 1983
Allopregnanolone attenuates N-methyl-d-aspartate-induced excitotoxicity and apoptosis in the human NT2 cell line in culture
EM Lockhart, DS Warner, RD Pearlstein, DH Penning, S Mehrabani, ...
Neuroscience letters 328 (1), 33-36, 2002
Clinical classification of neuronal ceroid‐lipofuscinosis subtypes
RMN Boustany, J Alroy, EH Kolodny, JM Opitz, JF Reynolds, RK Pullarkat
American Journal of Medical Genetics 31 (S5), 47-58, 1988
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
A Hentati, MA Pericak-Vance, F Lennon, B Wasserman, F Hentati, ...
Human molecular genetics 3 (10), 1867-1871, 1994
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis
DANW Persaud-Sawin, A VanDongen, RMN Boustany
Human Molecular Genetics 11 (18), 2129-2142, 2002
The CLN9 protein, a regulator of dihydroceramide synthase
A Schulz, T Mousallem, M Venkataramani, DA Persaud-Sawin, A Zucker, ...
Journal of Biological Chemistry 281 (5), 2784-2794, 2006
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant
A Schulz, S Dhar, S Rylova, G Dbaibo, J Alroy, C Hagel, I Artacho, ...
Annals of neurology 56 (3), 342-350, 2004
The CLN3 gene is a novel molecular target for cancer drug discovery
SN Rylova, A Amalfitano, DA Persaud-Sawin, WX Guo, J Chang, ...
Cancer research 62 (3), 801-808, 2002
Synergistic control of T cell development and tumor suppression by diacylglycerol kinase α and ζ
R Guo, CK Wan, JH Carpenter, T Mousallem, RMN Boustany, CT Kuan, ...
Proceedings of the National Academy of Sciences 105 (33), 11909-11914, 2008
Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3‐and CLN2‐deficient neurons
S Dhar, RL Bitting, SN Rylova, PJ Jansen, E Lockhart, DD Koeberl, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes
DA Persaud-Sawin, JO McNamara, S Rylova, A Vandongen, ...
Pediatric research 56 (3), 449-463, 2004
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