PMC Articles for MedGen (Select 1053539) - PMC

Select item 87387671.

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

Igor Bychkov, Alexandra Filatova, Grigory Perelman, Tatiana Proshlyakova, Daria Korotkova, Sergey Klyushnikov, Maria Karpova, Vyacheslav Tabakov, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova

Eur J Hum Genet. 2022 Jan; 30(1): 133–136. Published online 2021 May 6. doi: 10.1038/s41431-021-00898-7

PMCID:: PMC8738767

Abstract Article PDF–693K

Select item 85176052.

HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts

Nina H. Pipalia, Syed Z. Saad, Kanagaraj Subramanian, Abigail Cross, Aisha al-Motawa, Kunal Garg, Brian S.J. Blagg, Len Neckers, Paul Helquist, Olaf Wiest, Daniel S. Ory, Frederick R. Maxfield

J Lipid Res. 2021; 62: 100114. Published online 2021 Sep 3. doi: 10.1016/j.jlr.2021.100114

PMCID:: PMC8517605

Abstract Article PDF–3.4M

Select item 76055373.

Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain

Elaine A. Liu, Mark L. Schultz, Chisaki Mochida, Chan Chung, Henry L. Paulson, Andrew P. Lieberman

JCI Insight. 2020 Oct 15; 5(20): e136676. Published online 2020 Oct 15. doi: 10.1172/jci.insight.136676

PMCID:: PMC7605537

Abstract Article PDF–33M

Select item 74832744.

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Magda Cannata Serio, Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, Elzbieta Czarnowska, Jos C. Jansen, Miao He, Can Ficicioglu, Pavel Pichurin, Linda Hasadsri, Berge Minassian, Alessandra Rugierri, Hannu Kalimo, W. Alfredo Ríos‐Ocampo, Christian Gilissen, Richard Rodenburg, Johan W. Jonker, Adriaan G. Holleboom, Eva Morava, Joris A. Veltman, Piotr Socha, Tom H. Stevens, Matias Simons, Dirk J. Lefeber

Hepatology. 2020 Dec; 72(6): 1968–1986. Published online 2020 Dec 23. doi: 10.1002/hep.31218

Correction in:: Hepatology. 2022 Mar; 75(3): 772.

PMCID:: PMC7483274

Abstract Article PDF–2.6M

Select item 43195685.

Synthesis, Characterization, and Evaluation of Pluronic-Based β-Cyclodextrin Polyrotaxanes for Mobilization of Accumulated Cholesterol from Niemann-Pick Type C Fibroblasts

Christopher J. Collins, Leslie A. McCauliff, Seok-Hee Hyun, Zhaorui Zhang, Lake N. Paul, Aditya Kulkarni, Klaus Zick, Mary Wirth, Judith Storch, David H. Thompson

Biochemistry. Author manuscript; available in PMC 2015 Feb 6.

Published in final edited form as: Biochemistry. 2013 May 14; 52(19): 3242–3253. Published online 2013 Apr 30. doi: 10.1021/bi3010889

PMCID:: PMC4319568

Abstract Article PDF–1.5M

Select item 42323746.

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, Carlo Cantile, Roberta Saleri, Bruno Bembi, Andrea Dardis

PLoS One. 2014; 9(11): e112503. Published online 2014 Nov 14. doi: 10.1371/journal.pone.0112503

PMCID:: PMC4232374

Abstract Article PDF–3.0M

Select item 34831797.

Quantitative Comparison of the Efficacy of Various Compounds in Lowering Intracellular Cholesterol Levels in Niemann-Pick Type C Fibroblasts

Zachary T. Wehrmann, Tyler W. Hulett, Kara L. Huegel, Kevin T. Vaughan, Olaf Wiest, Paul Helquist, Holly Goodson

PLoS One. 2012; 7(10): e48561. Published online 2012 Oct 29. doi: 10.1371/journal.pone.0048561

PMCID:: PMC3483179

Abstract Article PDF–499K

Select item 31229108.

Altered vitamin E status in Niemann-Pick type C disease

L. Ulatowski, R. Parker, C. Davidson, N. Yanjanin, T. J. Kelley, D. Corey, J. Atkinson, F. Porter, H. Arai, S. U. Walkley, D. Manor

J Lipid Res. 2011 Jul; 52(7): 1400–1410. doi: 10.1194/jlr.M015560

PMCID:: PMC3122910

Abstract Article PDF–1.2M

Select item 30784019.

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

Nina H. Pipalia, Casey C. Cosner, Amy Huang, Anamitra Chatterjee, Pauline Bourbon, Nathan Farley, Paul Helquist, Olaf Wiest, Frederick R. Maxfield

Proc Natl Acad Sci U S A. 2011 Apr 5; 108(14): 5620–5625. Published online 2011 Mar 21. doi: 10.1073/pnas.1014890108

PMCID:: PMC3078401

Abstract Article PDF–725K

Select item 285180410.

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

Anton I. Rosenbaum, Guangtao Zhang, J. David Warren, Frederick R. Maxfield

Proc Natl Acad Sci U S A. 2010 Mar 23; 107(12): 5477–5482. Published online 2010 Mar 8. doi: 10.1073/pnas.0914309107

PMCID:: PMC2851804

Abstract Article PDF–1.1M

Select item 168286711.

Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk

Marie T. Vanier, Claire Rodriguez-Lafrasse, Robert Rousson, Ginette Mandon, Joëlle Boué, Agnès Choiset, Marie-France Peyrat, Christiane Dumontel, Marie-Christine Juge, Peter G. Pentchev, André Revol, Pierre Louisot

Am J Hum Genet. 1992 Jul; 51(1): 111–122.

PMCID:: PMC1682867

Summary Page Browse PDF–2.6M

Select item 128784812.

Saccharomyces cerevisiae Npc2p Is a Functionally Conserved Homologue of the Human Niemann-Pick Disease Type C 2 Protein, hNPC2

Adam C. Berger, Thomas H. Vanderford, Kim M. Gernert, J. Wylie Nichols, Victor Faundez, Anita H. Corbett

Eukaryot Cell. 2005 Nov; 4(11): 1851–1862. doi: 10.1128/EC.4.11.1851-1862.2005

PMCID:: PMC1287848

Abstract Article PDF–1.9M

Select item 45257113.

Disturbed Cholesterol Traffic but Normal Proteolytic Function in LAMP-1/LAMP-2 Double-deficient Fibroblasts

Eeva-Liisa Eskelinen, Christine Katrin Schmidt, Silja Neu, Marion Willenborg, Graciela Fuertes, Natalia Salvador, Yoshitaka Tanaka, Renate Lüllmann-Rauch, Dieter Hartmann, Jörg Heeren, Kurt von Figura, Erwin Knecht, Paul Saftig

Mol Biol Cell. 2004 Jul; 15(7): 3132–3145. doi: 10.1091/mbc.E04-02-0103

PMCID:: PMC452571

Abstract Article PDF–1.3M

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