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1

Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice

Jeffry F. Goodrum, Peter G. Pentchev

Journal:

Journal of Neuroscience Research

Année:

1997

Langue:

english

Fichier:

PDF, 333 KB

english, 1997

2

Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol

Calvin F. Roff, Ehud Goldin, Marcella E. Comly, Joan Blanchette-Mackie, Adele Cooney, Roscoe O. Brady, Peter G. Pentchev

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 768 KB

english, 1992

3

The distribution of glucocerebroside in the liver of patients with Gaucher's disease

Andrew E. Gal, Peter G. Pentchev, John A. Barranger, James M. Dambrosia, Roscoe O. Brady

Journal:

Analytical Biochemistry

Année:

1979

Langue:

english

Fichier:

PDF, 446 KB

english, 1979

4

Peripheral nerve pathology in Niemann-Pick type C mouse

Yasuto Higashi, Shigeo Murayama, Peter G. Pentchev, Kinuko Suzuki

Journal:

Acta Neuropathologica

Année:

1995

Langue:

english

Fichier:

PDF, 1.94 MB

english, 1995

5

Neurofibrillary tangles in Niemann-Pick disease type C

Kipuko Suzuki, Colette C. Parker, Peter G. Pentchev, David Katz, Bernardino Ghetti, Anthony N. D'Agostino, Eugene D. Carstea

Journal:

Acta Neuropathologica

Année:

1995

Langue:

english

Fichier:

PDF, 3.81 MB

english, 1995

6

Storage of glycoprotein in NCTR-Balb/C mouse

Hana Weintraub, Joseph Alroy, Rita DeGasperi, Vibha Goyal, Ehud Skutelsky, Peter G. Pentchev, Christopher D. Warren

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Année:

1992

Langue:

english

Fichier:

PDF, 2.20 MB

english, 1992

7

The NP-C gene: a key to pathways of intracellular cholesterol transport

Peter G. Pentchev, E.Joan Blanchette-Mackie, Eliezer A. Dawidowicz

Journal:

Trends in Cell Biology

Année:

1994

Langue:

english

Fichier:

PDF, 2.72 MB

english, 1994

8

Reduced cholesterol accumulation and improved deficient peroxisomal functions in a murine model of niemann–pick type C disease upon treatment with peroxisomal proliferators

Sophia Schedin, Peter Pentchev, Gustav Dallner

Journal:

Biochemical Pharmacology

Année:

1998

Langue:

english

Fichier:

PDF, 387 KB

english, 1998

9

Neurochemical alterations in the cerebellum of a murine model of Niemann–Pick type C disease

Gal Yadid, Iris Sotnik-Barkai, Carlo Tornatore, Belinda Baker-Cairns, Judith Harvey-White, Peter G. Pentchev, Ehud Goldin

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 391 KB

english, 1998

10

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

Journal:

Clinical Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1988

11

The Isolation and Crystallization of Yeast and Rabbit Liver Triose Phosphate Isomerase and a Comparative Characterization with the Rabbit Muscle Enzyme

Wolfgang K. G. Krietsch, Peter G. Pentchev, Helgard Klingenbürg, Thomas Hofstätter, Theodor Bücher

Journal:

Année:

1970

Langue:

english

Fichier:

PDF, 1.16 MB

english, 1970

12

The Isolation and Characterization of the Isoenzymes of Rabbit-Muscle Triosephosphate Isomerase

Wolfgang K. G. Krietsch, Peter G. Pentchev, Helgard Klingenburg

Journal:

Année:

1971

Langue:

english

Fichier:

PDF, 778 KB

english, 1971

13

The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 Gene

Jill A. Morris, Dana Zhang, Katherine G. Coleman, James Nagle, Peter G. Pentchev, Eugene D. Carstea

Journal:

Biochemical and Biophysical Research Communications

Année:

1999

Langue:

english

Fichier:

PDF, 95 KB

english, 1999

14

Cyclopamine Inhibition of Sonic Hedgehog Signal Transduction Is Not Mediated through Effects on Cholesterol Transport

John P. Incardona, William Gaffield, Yvonne Lange, Adele Cooney, Peter G. Pentchev, Sharon Liu, John A. Watson, Raj P. Kapur, Henk Roelink

Journal:

Developmental Biology

Année:

2000

Langue:

english

Fichier:

PDF, 593 KB

english, 2000

15

NPC1-Containing Compartment of Human Granulosa-Lutein Cells: A Role in the Intracellular Trafficking of Cholesterol Supporting Steroidogenesis

Hidemichi Watari, E.Joan Blanchette-Mackie, Nancy K. Dwyer, Gwoshing Sun, Jane M. Glick, Shutish Patel, Edward B. Neufeld, Peter G. Pentchev, Jerome F. Strauss III

Journal:

Experimental Cell Research

Année:

2000

Langue:

english

Fichier:

PDF, 796 KB

english, 2000

16

Determinants of NPC1 Expression and Action: Key Promoter Regions, Posttranscriptional Control, and the Importance of a “Cysteine-Rich” Loop

Hidemichi Watari, E.Joan Blanchette-Mackie, Nancy K. Dwyer, Michiko Watari, Christopher G. Burd, Shutish Patel, Peter G. Pentchev, Jerome F. Strauss III

Journal:

Experimental Cell Research

Année:

2000

Langue:

english

Fichier:

PDF, 301 KB

english, 2000

17

Normolipemic subcutaneous xanthomatosis

Raul Fleischmajer, Ernst J. Schaefer, Andrew E. Gal, Peter G. Pentchev, G.Stephen Tint

Journal:

The American Journal of Medicine

Année:

1983

Langue:

english

Fichier:

PDF, 2.10 MB

english, 1983

18

The isolation and characterization of sphingomyelinase from human placental tissue

Peter G. Pentchev, Roscoe O. Brady, Andrew E. Gal, Sue R. Hibbert

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Année:

1977

Langue:

english

Fichier:

PDF, 955 KB

english, 1977

19

Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts

E. Joan Blanchette Mackie, Nancy K. Dwyer, Marie T. Vanier, Jacob Sokol, Henri F. Merrick, Marcella E. Comly, Charles E. Argoff, Peter G. Pentchev

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Année:

1989

Langue:

english

Fichier:

PDF, 3.85 MB

english, 1989

20

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

Claire Rodriguez-Lafrasse, Robert Rousson, Jean Bonnet, Peter G. Pentchev, Pierre Louisot, Marie T. Vanier

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Année:

1990

Langue:

english

Fichier:

PDF, 607 KB

english, 1990

21

Type C Niemann-Pick disease: A murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver

Ehud Goldin, Calvin F. Roff, Stephen P.F. Miller, Claire Rodriguez-Lafrasse, Marie T. Vanier, Roscoe O. Brady, Peter G. Pentchev

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Année:

1992

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1992

22

Impaired cholesterol esterification in primary brain cultures of the lysosomal cholesterol storage disorder (LCSD) mouse mutant

Shutish C. Patel, Sundar Suresh, Hana Weintroub, Roscoe O. Brady, Peter G. Pentchev

Journal:

Biochemical and Biophysical Research Communications

Année:

1987

Langue:

english

Fichier:

PDF, 461 KB

english, 1987

23

Type C Niemann-Pick disease: Documentation of abnormal LDL processing in lymphocytes

Charles E. Argoff, Christine R. Kaneski, E.Joan Blanchette-Mackie, Marcella Comly, Nancy K. Dwyer, Anthony Brown, Roscoe O. Brady, Peter G. Pentchev

Journal:

Biochemical and Biophysical Research Communications

Année:

1990

Langue:

english

Fichier:

PDF, 4.02 MB

english, 1990

24

A practical chromogenic procedure for the diagnosis of Krabbe's disease

Andrew E. Gal, Roscoe O. Brady, Peter G. Pentchev, F. Scott Furbish, Kunihiko Suzuki, Harumi Tanaka, Edward L. Schneider

Journal:

Clinica Chimica Acta

Année:

1977

Langue:

english

Fichier:

PDF, 488 KB

english, 1977

25

The diagnosis of type A and type B niemann-pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin

Andrew E. Gal, Roscoe O. Brady, John A. Barranger, Peter G. Pentchev

Journal:

Clinica Chimica Acta

Année:

1980

Langue:

english

Fichier:

PDF, 254 KB

english, 1980

26

Diagnosis of adult gaucher disease: Use of a new chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-β-d-glucopyranoside, in cultured skin fibroblasts

William G. Johnson, Andrew E. Gal, Armand F. Miranda, Peter G. Pentchev

Journal:

Clinica Chimica Acta

Année:

1980

Langue:

english

Fichier:

PDF, 492 KB

english, 1980

27

Niemann–Pick C research from mouse to gene

Peter G. Pentchev

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Année:

2004

Langue:

english

Fichier:

PDF, 185 KB

english, 2004

28

Spreading the Wealth: Niemann-Pick Type C Proteins Bind and Transport Cholesterol

Andrew B. Munkacsi, Peter G. Pentchev, Stephen L. Sturley

Journal:

Cell Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 268 KB

english, 2009

29

Diagnosis of Niemann-Pick disease type C

Peter G. Pentchev, Marc C. Patterson

Journal:

The Journal of Pediatrics

Année:

1994

Langue:

english

Fichier:

PDF, 198 KB

english, 1994

30

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Gilles Millat, Christophe Marçais, Mohammad A. Rafi, Toshiyuki Yamamoto, Jill A. Morris, Peter G. Pentchev, Kousaku Ohno, David A. Wenger, Marie T. Vanier

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 133 KB

english, 1999

31

Studies of lysosomal function: I. Metabolism of some complex lipids by isolated hepatocytes and Kupffer cells

John A. Barranger, Peter G. Pentchev, F. Scott Furbish, Clifford J. Steer, E. Anthony Jones, Roscoe O. Brady

Journal:

Biochemical and Biophysical Research Communications

Année:

1978

Langue:

english

Fichier:

PDF, 359 KB

english, 1978

32

Evolution of enzyme replacement therapy for lipid storage diseases

Roscoe O. Brady, Andrew E. Gal, Peter G. Pentchev

Journal:

Année:

1974

Langue:

english

Fichier:

PDF, 450 KB

english, 1974

33

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

Vanier, Marie T., Rodriguez-Lafrasse, Claire, Rousson, Robert, Gazzah, Noureddine, Juge, Marie-Christine, Pentchev, Peter G., Revol, AndrÃ©, Louisot, Pierre

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

1991

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1991

34

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

Gal, Andrew E., Brady, Roscoe O., Hibbert, Sue R., Pentchev, Peter G.

Journal:

Boston Medical and Surgical Journal

Année:

1975

Langue:

english

Fichier:

PDF, 1.44 MB

english, 1975

35

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol

Argoff, Charles E., Comly, Marcella E., Blanchette-Mackie, Joan, Kruth, Howard S., Pye, Harold T., Goldin, Ehud, Kaneski, Chris, Vanier, Marie T., Brady, Roscoe O., Pentchev, Peter G.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

1991

Langue:

english

Fichier:

PDF, 885 KB

english, 1991

36

Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders

Rodriguez-Lafrasse, Claire, Rousson, Robert, Pentchev, Peter G., Louisot, Pierre, Vanier, Marie T.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

1994

Langue:

english

Fichier:

PDF, 621 KB

english, 1994

37

Type-C Niemann-Pick Disease: Low Density Lipoprotein Uptake is Associated with Premature Cholesterol Accumulation in the Golgi Complex and Excessive Cholesterol Storage in Lysosomes

E. Joan Blanchette-Mackie, Nancy K. Dwyer, Lynn M. Amende, Howard S. Kruth, Jean D. Butler, Jacob Sokol, Marcella E. Comly, Marie T. Vanier, J. Thomas August, Roscoe O. Brady and Peter G. Pentchev

Journal:

Proceedings of the National Academy of Sciences

Année:

1988

Langue:

english

Fichier:

PDF, 1.63 MB

english, 1988

38

Niemann-Pick C1 Protein: Obligatory Roles for N-Terminal Domains and Lysosomal Targeting in Cholesterol Mobilization

Hidemichi Watari, E. Joan Blanchette-Mackie, Nancy K. Dwyer, Jane M. Glick, Shutish Patel, Edward B. Neufeld, Roscoe O. Brady, Peter G. Pentchev and Jerome F. Strauss III

Journal:

Proceedings of the National Academy of Sciences

Année:

1999

Langue:

english

Fichier:

PDF, 1.63 MB

english, 1999

39

Localization of Niemann-Pick C1 Protein in Astrocytes: Implications for Neuronal Degeneration in Niemann-Pick Type C Disease

Shutish C. Patel, Sundar Suresh, Ujendra Kumar, C. Y. Hu, Adele Cooney, E. Joan Blanchette-Mackie, Edward B. Neufeld, Ramesh C. Patel, Roscoe O. Brady, Yogesh C. Patel, Peter G. Pentchev and Wei-Yi On

Journal:

Proceedings of the National Academy of Sciences

Année:

1999

Langue:

english

Fichier:

PDF, 1.92 MB

english, 1999

40

Enzyme Replacement Therapy in Gaucher's Disease: Large-Scale Purification of Glucocerebrosidase Suitable for Human Administration

F. Scott Furbish, Henry E. Blair, Joseph Shiloach, Peter G. Pentchev and Roscoe O. Brady

Journal:

Proceedings of the National Academy of Sciences

Année:

1977

Langue:

english

Fichier:

PDF, 837 KB

english, 1977

41

Modification of the Blood--Brain Barrier: Increased Concentration and Fate of Enzymes Entering the Brain

John A. Barranger, Stanley I. Rapoport, Wendy R. Fredericks, Peter G. Pentchev, Kaye D. MacDermot, Jan K. Steusing and Roscoe O. Brady

Journal:

Proceedings of the National Academy of Sciences

Année:

1979

Langue:

english

Fichier:

PDF, 1.44 MB

english, 1979

42

L-Glucosylceramide: Synthesis, Properties, and Resistance to Catabolism by Glucocerebrosidase in vitro

Andrew E. Gal, Peter G. Pentchev, Janice M. Massey and Roscoe O. Brady

Journal:

Proceedings of the National Academy of Sciences

Année:

1979

Langue:

english

Fichier:

PDF, 1.09 MB

english, 1979

43

Anomalous mutarotation of glucose 6-phosphate. An example of intramolecular catalysis

Bailey, J. Martyn, Fishman, Peter H., Pentchev, Peter G.

Journal:

Année:

1970

Langue:

english

Fichier:

PDF, 593 KB

english, 1970

44

Analysis of a crystalline mutarotase from bovine kidney cortex

Fishman, Peter H., Pentchev, Peter G., Bailey, J. Martyn

Journal:

Année:

1973

Langue:

english

Fichier:

PDF, 1.42 MB

english, 1973

45

Molecular Cloning of the Mouse Apolipoprotein D Gene and Its Upregulated Expression in Niemann-Pick Disease Type C Mouse Model

YOSHIDA, KUNIHIRO, CLEAVELAND, EMILY S., NAGLE, JAMES W., FRENCH, STEFANIE, YASWEN, LINDA, OHSHIMA, TOSHIO, BRADY, ROSCOE O., PENTCHEV, PETER G., KULKARNI, ASHOK B.

Journal:

DNA and Cell Biology

Année:

1996

Langue:

english

Fichier:

PDF, 13.79 MB

english, 1996

46

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann–Pick type C Mouse

Kidder, Linda H., Colarusso, Pina, Stewart, Sarah A., Levin, Ira W., Appel, Nathan M., Lester, David S., Pentchev, Peter G., Lewis, E. Neil

Journal:

Journal of Biomedical Optics

Année:

1999

Langue:

english

Fichier:

PDF, 546 KB

english, 1999

47

Type C Niemann-Pick Disease: Use of Hydrophobic Amines to Study Defective Cholesterol Transport

Roff, Calvin F., Goldin, Ehud, Comly, Marcella E., Cooney, Adele, Brown, Anthony, Vanier, Marie T., Miller, Stephen P.F., Brady, Roscoe O., Pentchev, Peter G.

Journal:

Developmental Neuroscience

Année:

1991

Fichier:

PDF, 1019 KB

1991

48

SPIE Proceedings [SPIE 11th International School on Quantum Electronics: Laser Physics and Applications - Varna, Bulgaria (Monday 18 September 2000)] 11th International School on Quantum Electronics: Laser Physics and Applications - Laser transitions of Beutler 5d96s26p excited states of HgI

Blagoev, Kiril, Pentchev, Vesselin, Roussev, Rostislav V., Atanasov, Peter A., Cartaleva, Stefka

Année:

2001

Langue:

english

Fichier:

PDF, 156 KB

english, 2001

49

Replacement Therapy for Inherited Enzyme Deficiency

Brady, Roscoe O., Pentchev, Peter G., Gal, Andrew E., Hibbert, Sue R., Dekaban, Anatole S.

Journal:

Boston Medical and Surgical Journal

Année:

1974

Langue:

english

Fichier:

PDF, 2.75 MB

english, 1974

50

Cultured Skin Fibroblasts Derived from Patients with Mucolipidosis 4 Are Auto-Fluorescent

Goldin, Ehud, Blanchette-Mackie, E Joan, Dwyer, Nancy K, Pentchev, Peter G, Brady, Roscoe O

Journal:

Pediatric Research

Année:

1995

Langue:

english

Fichier:

PDF, 598 KB

english, 1995