Christine R. Kaneski
National Institutes of Health
50 Papers
360 Citations
Christine R. Kaneski is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Fabry disease & Leukodystrophy. The author has an hindex of 25, co-authored 48 publications. Previous affiliations of Christine R. Kaneski include Baylor University Medical Center.
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Papers
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Eugene D. Carstea,Jill A. Morris,Katherine G. Coleman,Stacie K. Loftus,Dana Zhang,Christiano Cummings,Jessie Z. Gu,Melissa A. Rosenfeld,William J. Pavan,David B. Krizman,James W. Nagle,M H Polymeropoulos,Stephen L. Sturley,Yiannis A. Ioannou,Maureen E. Higgins,Marcella E. Comly,Adele Cooney,Anthony Brown,Christine R. Kaneski,E. Joan Blanchette-Mackie,Nancy K. Dwyer,Edward B. Neufeld,Ta-Yuan Chang,Laura Liscum,Jerome F. Strauss,Kousaku Ohno,Marsha Zeigler,Rivka Carmi,J Sokol,David Markie,Raymond R. O'Neill,O. P. van Diggelen,Milan Elleder,Marc C. Patterson,Roscoe O. Brady,Marie T. Vanier,Peter G. Pentchev,Danilo A. Tagle +37 more
TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Mei Sun,Ehud Goldin,Stefanie Stahl,John L. Falardeau,John C. Kennedy,James S. Acierno,Catherine Bove,Christine R. Kaneski,James W. Nagle,Matthew C. Bromley,Matthew W. Colman,Raphael Schiffmann,Susan A. Slaugenhaupt +12 more
TL;DR: The cloning of a novel transient receptor potential cation channel gene is reported and it is shown that this gene is mutated in patients with the disorder.
Childhood ataxia with diffuse central nervous system hypomyelination
Raphael Schiffmann,Johanna R. Möller,Bruce D. Trapp,Henry H L Shih,Robert G. Farrer,David A. Katz,Jeffry R. Alger,Colette C. Parker,Peter E. Hauer,Christine R. Kaneski,John D. Heiss,Edward M. Kaye,Richard H. Quarles,Roscoe O. Brady,Norman W. Barton +14 more
TL;DR: The clinical, morphological, and biochemical characteristics of 4 unrelated girls with progressive ataxic diplegia of unknown etiology, including a marked decrease of N‐acetylaspartic acid, choline, and creatine in white matter only, are described.
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Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.
Jin Song Shen,Xing Li Meng,Xing Li Meng,David F. Moore,Jane M. Quirk,James A. Shayman,Raphael Schiffmann,Christine R. Kaneski +7 more
TL;DR: This study provided direct evidence that excess intracellular Gb(3) induces oxidative stress and up-regulates the expression of cellular adhesion molecules in vascular endothelial cells.
235
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
M. Timmons,Maria Tsokos,M. Abu Asab,Stephanie B. Seminara,G. C. Zirzow,Christine R. Kaneski,John D. Heiss,M.S. van der Knaap,M. T. Vanier,Raphael Schiffmann,Kondi Wong +10 more
TL;DR: Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity.
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