M
Marcella E. Comly
Researcher at National Institutes of Health
Publications - 15
Citations - 2560
Marcella E. Comly is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Cholesterol & Intracellular cholesterol transport. The author has an hindex of 11, co-authored 15 publications receiving 2395 citations.
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Journal ArticleDOI
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.
Journal ArticleDOI
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
Peter G. Pentchev,Marcella E. Comly,Howard S. Kruth,Marie T. Vanier,David A. Wenger,Shutish C. Patel,Roscoe O. Brady +6 more
TL;DR: The error in cholesterol esterification may provide an opportunity for probing the molecular lesion in this disorder and may afford a useful and reliable means for establishing diagnosis.
Journal ArticleDOI
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease.
Edward B. Neufeld,John A. Stonik,Stephen J. Demosky,Catherine L. Knapper,Christian A. Combs,Adele Cooney,Marcella E. Comly,Nancy K. Dwyer,Joan Blanchette-Mackie,Alan T. Remaley,Silvia Santamarina-Fojo,H. Bryan Brewer +11 more
TL;DR: The combined results of this study suggest that ABCA1 converts pools of late endocytic lipids that retain NPC1 to pools that can associate with endocytosed apoA-I, and be released from the cell as nascent high density lipoprotein.
Journal ArticleDOI
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.
Marie T. Vanier,David A. Wenger,Marcella E. Comly,Robert Rousson,Roscoe O. Brady,Peter G. Pentchev +5 more
TL;DR: Defective intracellular cholesterol esterification is further established as an intrinsic feature of Niemann‐Pick disease group C, and demonstration of this metabolic alteration appears as a major advance in diagnosing the condition.
Journal ArticleDOI
Conditional Knock-out Reveals a Requirement for O-Linked N-Acetylglucosaminase (O-GlcNAcase) in Metabolic Homeostasis
Chithra Keembiyehetty,Dona C. Love,Katryn R. Harwood,Oksana Gavrilova,Marcella E. Comly,John A. Hanover +5 more
TL;DR: It is suggested that the loss of mouse OGA leads to defects in metabolic homeostasis culminating in obesity and insulin resistance, particularly during pregnancy and the postpartum period of development.