PMC Links for Nucleotide (Select 1769823749) - PMC

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Items: 18

Select item 61633161.

Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways

Milan Hodošček, Nadia Elghobashi-Meinhardt

Int J Mol Sci. 2018 Sep; 19(9): 2623. Published online 2018 Sep 4. doi: 10.3390/ijms19092623

PMCID:: PMC6163316

Article PDF–2.6M

Select item 60323642.

Niemann-Pick Type C2 Protein Regulates Free Cholesterol Accumulation and Influences Hepatic Stellate Cell Proliferation and Mitochondrial Respiration Function

Yuan-Hsi Wang, Yuh-Ching Twu, Chung-Kwe Wang, Fu-Zhen Lin, Chun-Ya Lee, Yi-Jen Liao

Int J Mol Sci. 2018 Jun; 19(6): 1678. Published online 2018 Jun 5. doi: 10.3390/ijms19061678

PMCID:: PMC6032364

Article PDF–1.9M

Select item 56796593.

Concerted regulation of npc2 binding to endosomal/lysosomal membranes by bis(monoacylglycero)phosphate and sphingomyelin

Giray Enkavi, Heikki Mikkolainen, Burçin Güngör, Elina Ikonen, Ilpo Vattulainen

PLoS Comput Biol. 2017 Oct; 13(10): e1005831. Published online 2017 Oct 30. doi: 10.1371/journal.pcbi.1005831

PMCID:: PMC5679659

Article PDF–6.8M

Select item 66873424.

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani

Genet Mol Biol. 2019; 42(1 Suppl 1): 197–206. Published online 2019 Apr 11. doi: 10.1590/1678-4685-GMB-2018-0092

PMCID:: PMC6687342

Article PDF–1.0M

Select item 51227735.

Necroptosis-like Neuronal Cell Death Caused by Cellular Cholesterol Accumulation

Takeshi Funakoshi, Toshihiko Aki, Masateru Tajiri, Kana Unuma, Koichi Uemura

J Biol Chem. 2016 Nov 25; 291(48): 25050–25065. Published online 2016 Oct 18. doi: 10.1074/jbc.M116.727404

PMCID:: PMC5122773

Article PDF–3.5M

Select item 50700016.

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Matthew J. Gazzellone, Mehdi Zarrei, Christie L. Burton, Susan Walker, Mohammed Uddin, S. M. Shaheen, Julie Coste, Rageen Rajendram, Reva J. Schachter, Marlena Colasanto, Gregory L. Hanna, David R. Rosenberg, Noam Soreni, Kate D. Fitzgerald, Christian R. Marshall, Janet A. Buchanan, Daniele Merico, Paul D. Arnold, Stephen W. Scherer

J Neurodev Disord. 2016; 8: 36. Published online 2016 Oct 18. doi: 10.1186/s11689-016-9170-9

PMCID:: PMC5070001

Article PDF–435K

Select item 47760737.

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Judith Wellhausen, Stephan Rust, Thorsten Marquardt

EBioMedicine. 2016 Feb; 4: 170–175. Published online 2015 Dec 22. doi: 10.1016/j.ebiom.2015.12.018

PMCID:: PMC4776073

Article PDF–593K

Select item 44849068.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

J. Reunert, A. S. Lotz-Havla, G. Polo, F. Kannenberg, M. Fobker, M. Griese, E. Mengel, A. C. Muntau, P. Schnabel, O. Sommerburg, I. Borggraefe, A. Dardis, A. P. Burlina, M. A. Mall, G. Ciana, B. Bembi, A. B. Burlina, T. Marquardt

JIMD Rep. 2015; 23: 17–26. Published online 2015 Mar 13. doi: 10.1007/8904_2015_423

PMCID:: PMC4484906

Article PDF–699K

Select item 40241209.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho

Orphanet J Rare Dis. 2014; 9: 59. Published online 2014 Apr 25. doi: 10.1186/1750-1172-9-59

PMCID:: PMC4024120

Article PDF–447K

Select item 378901510.

Functional analysis of human cancer-associated genes and their association with the testes and epididymis

XIU-FENG HUA, XUE-BO WANG, FU-JUN LIU

Oncol Lett. 2013 Sep; 6(3): 811–816. Published online 2013 Jul 8. doi: 10.3892/ol.2013.1450

PMCID:: PMC3789015

Article PDF–313K

Select item 376263611.

ML3 Is a NEDD8- and Ubiquitin-Modified Protein

Jana P. Hakenjos, Sarosh Bejai, Quirin Ranftl, Carina Behringer, A. Corina Vlot, Birgit Absmanner, Ulrich Hammes, Stephanie Heinzlmeir, Bernhard Kuster, Claus Schwechheimer

Plant Physiol. 2013 Sep; 163(1): 135–149. Published online 2013 Jul 31. doi: 10.1104/pp.113.221341

PMCID:: PMC3762636

Article PDF–1.6M

Select item 364993912.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

Miriam Stampfer, Susanne Theiss, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S Ory, Eugen Mengel, Christine Fischer, Heiko Runz

Orphanet J Rare Dis. 2013; 8: 35. Published online 2013 Feb 22. doi: 10.1186/1750-1172-8-35

PMCID:: PMC3649939

Article PDF–1.6M

Select item 328417013.

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz

J Lipid Res. 2011 Apr; 52(4): 813–825. doi: 10.1194/jlr.P013524

PMCID:: PMC3284170

Article PDF–1.5M

Select item 308856014.

Changes in Gene Expression in Human Meibomian Gland Dysfunction

Shaohui Liu, Stephen M. Richards, Kristine Lo, Mark Hatton, Aaron Fay, David A. Sullivan

Invest Ophthalmol Vis Sci. 2011 Apr; 52(5): 2727–2740. Published online 2011 Apr 25. doi: 10.1167/iovs.10-6482

PMCID:: PMC3088560

Article PDF–122K

Select item 301705915.

A Novel Role for Niemann-Pick Disease Type 2C Protein in Papillae Formation

Masahiro Sugawara, Hidemi Ohye, Chisato Tomoda, Takahiko Kogai, Yoshimasa Kamata, Gholam H. Pezeshkpour, Farhad Moatamed

PLoS One. 2011; 6(1): e15777. Published online 2011 Jan 6. doi: 10.1371/journal.pone.0015777

PMCID:: PMC3017059

Article PDF–1.0M

Select item 275332416.

Psychotropic drugs up-regulate the expression of cholesterol transport proteins including ApoE in cultured human CNS- and liver cells

Audun O Vik-Mo, Johan Fernø, Silje Skrede, Vidar M Steen

BMC Pharmacol. 2009; 9: 10. Published online 2009 Aug 29. doi: 10.1186/1471-2210-9-10

PMCID:: PMC2753324

Article PDF–837K

Select item 262330317.

Efficiency Analysis of Competing Tests for Finding Differentially Expressed Genes in Lung Adenocarcinoma

Rick Jordan, Satish Patel, Hai Hu, James Lyons-Weiler

Cancer Inform. 2008; 6: 389–421. Published online 2008 Jul 14. doi: 10.4137/cin.s791

PMCID:: PMC2623303

Article PDF–2.3M

Select item 253341218.

DHA induces ER stress and growth arrest in human colon cancer cells: associations with cholesterol and calcium homeostasis

Caroline Hild Jakobsen, Gro Leite Størvold, Hilde Bremseth, Turid Follestad, Kristin Sand, Merete Mack, Karina Standahl Olsen, Anne Gøril Lundemo, Jens Gustav Iversen, Hans Einar Krokan, Svanhild Arentz Schønberg

J Lipid Res. 2008 Oct; 49(10): 2089–2100. doi: 10.1194/jlr.M700389-JLR200