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1

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

Year:

2000

Language:

english

File:

PDF, 301 KB

english, 2000

2

Niemann–Pick C research from mouse to gene

Peter G. Pentchev

Journal:

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

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

3

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

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

Journal:

Cell Metabolism

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

4

Analysis of a crystalline mutarotase from bovine kidney cortex

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

Journal:

Year:

1973

Language:

english

File:

PDF, 1.42 MB

english, 1973

5

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

Year:

1992

Language:

english

File:

PDF, 1.05 MB

english, 1992

6

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

Year:

1974

Language:

english

File:

PDF, 2.75 MB

english, 1974

7

SPIE Proceedings [SPIE 12th International School on Quantum Electronics Laser Physics and Applications - Varna, Bulgaria (Monday 23 September 2002)] 12th International School on Quantum Electronics: Laser Physics and Applications - Radiative lifetimes of n 1 P 1 excited states of HgI

Blagoev, Kiril, Atanasov, Peter A., Serafetinides, Alexander A., Pentchev, Vesselin P., Malcheva, Galina V., Kolev, Ivan N., Svanberg, Sune, Zhang, Z. G., Wahlstrom, Claes-Goran

Year:

2002

Language:

english

File:

PDF, 229 KB

english, 2002

8

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

Year:

1999

Language:

english

File:

PDF, 546 KB

english, 1999

9

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

Year:

1990

Language:

english

File:

PDF, 4.02 MB

english, 1990

10

Evolution of enzyme replacement therapy for lipid storage diseases

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

Journal:

Year:

1974

Language:

english

File:

PDF, 450 KB

english, 1974

11

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

Year:

1977

Language:

english

File:

PDF, 837 KB

english, 1977

12

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

Year:

1979

Language:

english

File:

PDF, 1.44 MB

english, 1979

13

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

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

Journal:

Year:

1971

Language:

english

File:

PDF, 778 KB

english, 1971

14

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

Year:

1978

Language:

english

File:

PDF, 359 KB

english, 1978

15

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

Year:

1988

Language:

english

File:

PDF, 1.05 MB

english, 1988

16

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

Year:

1988

Language:

english

File:

PDF, 1.63 MB

english, 1988

17

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:

Year:

1970

Language:

english

File:

PDF, 1.16 MB

english, 1970

18

Diagnosis of Niemann-Pick disease type C

Peter G. Pentchev, Marc C. Patterson

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 198 KB

english, 1994

19

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

Year:

1979

Language:

english

File:

PDF, 1.09 MB

english, 1979

20

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

Year:

1999

Language:

english

File:

PDF, 1.92 MB

english, 1999

21

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

Year:

1997

Language:

english

File:

PDF, 333 KB

english, 1997

22

Peripheral nerve pathology in Niemann-Pick type C mouse

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

Journal:

Acta Neuropathologica

Year:

1995

Language:

english

File:

PDF, 1.94 MB

english, 1995

23

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

Year:

2000

Language:

english

File:

PDF, 593 KB

english, 2000

24

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

Year:

1989

Language:

english

File:

PDF, 3.85 MB

english, 1989

25

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

Year:

1977

Language:

english

File:

PDF, 488 KB

english, 1977

26

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

Year:

1975

Language:

english

File:

PDF, 1.44 MB

english, 1975

27

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

Year:

1992

Language:

english

File:

PDF, 768 KB

english, 1992

28

Cholesterol Deprivation Affects the Fluorescence Properties of a Ceramide Analog at the Golgi Apparatus of Living Cells

Ona C. Martin, Marcella E. Comly, E. Joan Blanchette-Mackie, Peter G. Pentchev and Richard E. Pagano

Journal:

Proceedings of the National Academy of Sciences

Year:

1993

Language:

english

File:

PDF, 1.37 MB

english, 1993

29

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

Year:

1990

Language:

english

File:

PDF, 607 KB

english, 1990

30

Normolipemic subcutaneous xanthomatosis

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

Journal:

The American Journal of Medicine

Year:

1983

Language:

english

File:

PDF, 2.10 MB

english, 1983

31

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

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

32

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

Year:

1994

Language:

english

File:

PDF, 621 KB

english, 1994

33

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

Year:

1991

File:

PDF, 1019 KB

1991

34

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

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

35

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

Year:

1979

Language:

english

File:

PDF, 446 KB

english, 1979

36

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

Year:

1977

Language:

english

File:

PDF, 955 KB

english, 1977

37

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

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

Journal:

Year:

1970

Language:

english

File:

PDF, 593 KB

english, 1970

38

An Enzymological Approach to the Lipidoses

Tallman, John, Pentchev, Peter, Brady, Roscoe

Journal:

Year:

1974

File:

PDF, 823 KB

1974

39

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

Year:

1998

Language:

english

File:

PDF, 387 KB

english, 1998

40

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

Year:

1980

Language:

english

File:

PDF, 492 KB

english, 1980

41

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

Year:

1999

Language:

english

File:

PDF, 1.63 MB

english, 1999

42

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

Year:

2001

Language:

english

File:

PDF, 156 KB

english, 2001

43

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

Year:

1995

Language:

english

File:

PDF, 3.81 MB

english, 1995

44

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

Year:

1995

Language:

english

File:

PDF, 598 KB

english, 1995

45

Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein

Xie, Chonglun, Turley, Stephen D., Pentchev, Peter G., Dietschy, John M.

Journal:

American Journal of Physiology-Endocrinology and Metabolism

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

46

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:

Year:

1998

Language:

english

File:

PDF, 391 KB

english, 1998

47

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

Year:

1980

Language:

english

File:

PDF, 254 KB

english, 1980

48

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

Year:

1991

Language:

english

File:

PDF, 1.03 MB

english, 1991

49

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

Vanier, Marie T., Rodriguez-Lafrasse, Claire, Rousson, Robert, Duthel, Sylvie, Harzer, Klaus, Pentchev, Peter G., Revol, André, Louisot, Pierre

Journal:

Developmental Neuroscience

Year:

1991

Language:

english

File:

PDF, 1.60 MB

english, 1991

50

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

Year:

1987

Language:

english

File:

PDF, 461 KB

english, 1987

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