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Select item 98589931.

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Qaiser Zaman, Sadeeda, Muhammad Anas, Gauhar Rehman, Qadeem Khan, Aiman Iftikhar, Mashal Ahmad, Muhammad Owais, Ilyas Ahmad, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Musharraf Jelani, Muhammad Imran Naseer

Genes (Basel) 2023 Jan; 14(1): 145. Published online 2023 Jan 5. doi: 10.3390/genes14010145

PMCID:: PMC9858993

Abstract Article PDF–2.4M

Select item 36406232.

Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico

Maribel Torres Serrant, Sonia I Ramirez, Carmen L Cadilla, Gilberto Ramos-Valencia

J Pediatr Hematol Oncol. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: J Pediatr Hematol Oncol. 2010 Aug; 32(6): 448–453. doi: 10.1097/MPH.0b013e3181e5e1f1

PMCID:: PMC3640623

Abstract Article PDF–1.2M

Select item 16022983.

Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky-Pudlak Syndrome-Type 3

Raymond E. Boissy, Bonnie Richmond, Marjan Huizing, Amanda Helip-Wooley, Yang Zhao, Amy Koshoffer, William A. Gahl

Am J Pathol. 2005 Jan; 166(1): 231–240. doi: 10.1016/S0002-9440(10)62247-X

PMCID:: PMC1602298

Abstract Article PDF–4.7M

Select item 12495604.

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Mieke Mommaas, Raymond E Boissy, William A Gahl, Marjan Huizing

BMC Cell Biol. 2005; 6: 33. Published online 2005 Sep 13. doi: 10.1186/1471-2121-6-33

PMCID:: PMC1249560

Abstract Article PDF–2.2M

Select item 13769515.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

J Oh, L Ho, S Ala-Mello, D Amato, L Armstrong, S Bellucci, G Carakushansky, J P Ellis, C T Fong, J S Green, E Heon, E Legius, A V Levin, H K Nieuwenhuis, A Pinckers, N Tamura, M L Whiteford, H Yamasaki, R A Spritz

Am J Hum Genet. 1998 Mar; 62(3): 593–598. doi: 10.1086/301757

PMCID:: PMC1376951

Summary PDF–283K

Select item 12743496.

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl

Am J Hum Genet. 2001 Nov; 69(5): 1022–1032. Published online 2001 Oct 3. doi: 10.1086/324168

PMCID:: PMC1274349

Abstract Article PDF–490K

Select item 35603887.

Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

Pedro J. Santiago Borrero, Yolanda Rodríguez-Pérez, Jessicca Y. Renta, Natalio J. Izquierdo, Laura del Fierro, Daniel Muñoz, Norma López Molina, Sonia Ramírez, Glorivee Pagán-Mercado, Idith Ortíz, Enid Rivera-Caragol, Richard A. Spritz, Carmen L. Cadilla

J Invest Dermatol. Author manuscript; available in PMC 2013 Jan 31.

Published in final edited form as: J Invest Dermatol. 2006 Jan; 126(1): 85–90. doi: 10.1038/sj.jid.5700034

PMCID:: PMC3560388

Abstract Article PDF–296K

Select item 1663888.

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4

Ramin Nazarian, Juan M. Falcón-Pérez, Esteban C. Dell'Angelica

Proc Natl Acad Sci U S A. 2003 Jul 22; 100(15): 8770–8775. Published online 2003 Jul 7. doi: 10.1073/pnas.1532040100

PMCID:: PMC166388

Abstract Article PDF–471K

Select item 35028629.

BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor

Andreas Gerondopoulos, Lars Langemeyer, Jin-Rui Liang, Andrea Linford, Francis A. Barr

Curr Biol. 2012 Nov 20; 22(22): 2135–2139. doi: 10.1016/j.cub.2012.09.020

PMCID:: PMC3502862

Abstract Article PDF–721K

Select item 362009610.

Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles

Jarred J. Bultema, Santiago M. Di Pietro

Small GTPases. 2013 Jan 1; 4(1): 16–21. doi: 10.4161/sgtp.22349

PMCID:: PMC3620096

Abstract Article PDF–1.0M

Select item 432443911.

Proteomic Analysis and Identification of Cellular Interactors of the Giant Ubiquitin Ligase HERC2

Jeffrey T. Galligan, Gustavo Martinez-Noël, Verena Arndt, Sebastian Hayes, Thomas W. Chittenden, J. Wade Harper, Peter M. Howley

J Proteome Res. 2015 Feb 6; 14(2): 953–966. Published online 2014 Dec 4. doi: 10.1021/pr501005v

PMCID:: PMC4324439

Abstract Article PDF–7.5M

Select item 644186812.

POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1

Boshi Wang, Xiaoli Xu, Zhaojuan Yang, Li Zhang, Yun Liu, Aihui Ma, Guiqin Xu, Ming Tang, Tiantian Jing, Lin Wu, Yongzhong Liu

EBioMedicine. 2019 Mar; 41: 320–332. Published online 2019 Feb 7. doi: 10.1016/j.ebiom.2019.01.058

PMCID:: PMC6441868

Abstract Article PDF–7.0M

Select item 903755413.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 549522514.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 583915815.

Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells

Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo

Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31

PMCID:: PMC5839158

Abstract Article PDF–1.9M

Select item 586483216.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 582692617.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 911973618.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 461721119.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 553161120.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

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