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Select item 112735471.

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

Chung‐Lin Lee, Yeun‐Wen Chang, Hsiang‐Yu Lin, Hung‐Chang Lee, Ting‐Chi Yeh, Li‐Ching Fang, Ni‐Chung Lee, Jeng‐Daw Tsai, Shuan‐Pei Lin

Mol Genet Genomic Med. 2024 Jul; 12(7): e2494. Published online 2024 Jul 26. doi: 10.1002/mgg3.2494

PMCID:: PMC11273547

Abstract Article PDF–2.6M

Select item 112611462.

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Maya M. Polovitskaya, Tanushka Rana, Kurt Ullrich, Simona Murko, Tatjana Bierhals, Guido Vogt, Tobias Stauber, Christian Kubisch, René Santer, Thomas J. Jentsch

J Biol Chem. 2024 Jul; 300(7): 107437. Published online 2024 Jun 3. doi: 10.1016/j.jbc.2024.107437

PMCID:: PMC11261146

Abstract Article PDF–5.7M

Select item 88339113.

The Role of the Lysosomal Cl⁻/H⁺ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration

Giovanni Zifarelli

Cells. 2022 Feb; 11(3): 366. Published online 2022 Jan 21. doi: 10.3390/cells11030366

PMCID:: PMC8833911

Abstract Article PDF–1.6M

Select item 76903984.

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis

Dmitrii S. Bug, Ildar M. Barkhatov, Yana V. Gudozhnikova, Artem V. Tishkov, Igor B. Zhulin, Natalia V. Petukhova

Genes (Basel) 2020 Nov; 11(11): 1242. Published online 2020 Oct 22. doi: 10.3390/genes11111242

PMCID:: PMC7690398

Abstract Article PDF–894K

Select item 51321325.

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

Sian E. Piret, Caroline M. Gorvin, Anne Trinh, John Taylor, Stefano Lise, Jenny C. Taylor, Peter R. Ebeling, Rajesh V. Thakker

Am J Med Genet A. 2016 Nov; 170(11): 2988–2992. Published online 2016 Aug 19. doi: 10.1002/ajmg.a.37755

PMCID:: PMC5132132

Abstract Article PDF–322K

Select item 49559696.

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

Hao Deng, Dan He, Pengfei Rong, Hongbo Xu, Lamei Yuan, Liu Li, Qian Lu, Yi Guo

Mol Pain. 2016; 12: 1744806916652628. Published online 2016 Jun 20. doi: 10.1177/1744806916652628

PMCID:: PMC4955969

Abstract Article PDF–360K

Select item 42536277.

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

Giuseppe Bonapace, Maria Teresa Moricca, Valentina Talarico, Francesca Graziano, Licia Pensabene, Roberto Miniero

Ital J Pediatr. 2014; 40: 90. Published online 2014 Nov 20. doi: 10.1186/s13052-014-0090-6

PMCID:: PMC4253627

Abstract Article PDF–756K

Select item 26570358.

CLCN7 Polymorphisms and Bone Mineral Density in Healthy Premenopausal White Women and In White Men

Kang Chu, Daniel L Koller, Shoji Ichikawa, Richard Snyder, Leah Curry, Dongbing Lai, Anthony Austin, Xiaoling Xuei, Howard J Edenberg, Siu L Hui, Tatiana M Foroud, Munro Peacock, Michael J Econs

Bone. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Bone. 2008 Dec; 43(6): 995–998. Published online 2008 Aug 8. doi: 10.1016/j.bone.2008.07.249

PMCID:: PMC2657035

Abstract Article PDF–390K

Select item 16156509.

Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II

Kim Henriksen, Jeppe Gram, Sophie Schaller, Bjarne H. Dahl, Morten H. Dziegiel, Jens Bollerslev, Morten A. Karsdal

Am J Pathol. 2004 May; 164(5): 1537–1545. doi: 10.1016/S0002-9440(10)63712-1

PMCID:: PMC1615650

Abstract Article PDF–1.2M

Select item 1074227410.

Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl⁻/H⁺ Exchanger ClC-7

Shroddha Bose, Cecilia de Heus, Mary E. Kennedy, Fan Wang, Thomas J. Jentsch, Judith Klumperman, Tobias Stauber

Biomolecules. 2023 Dec; 13(12): 1799. Published online 2023 Dec 15. doi: 10.3390/biom13121799

PMCID:: PMC10742274

Abstract Article PDF–8.0M

Select item 742337011.

Molecular insights into the human CLC-7/Ostm1 transporter

Sensen Zhang, Yang Liu, Bing Zhang, Jun Zhou, Tianyu Li, Zhiqiang Liu, Yang Li, Maojun Yang

Sci Adv. 2020 Aug; 6(33): eabb4747. Published online 2020 Aug 12. doi: 10.1126/sciadv.abb4747

PMCID:: PMC7423370

Abstract Article PDF–3.0M

Select item 656215212.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena-Raluca Nicoli, Mary R. Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker, II, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Undiagnosed Diseases Network, Wei Zheng, Lisa J. Garrett, Cynthia J. Tifft, William A. Gahl, Debra L. Day-Salvatore, Joseph A. Mindell, May Christine V. Malicdan

Am J Hum Genet. 2019 Jun 6; 104(6): 1127–1138. Published online 2019 May 30. doi: 10.1016/j.ajhg.2019.04.008

PMCID:: PMC6562152

Abstract Article PDF–4.6M

Select item 293535513.

The G215R Mutation in the Cl⁻/H⁺-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

Patrick Schulz, Johannes Werner, Tobias Stauber, Kim Henriksen, Klaus Fendler

PLoS One. 2010; 5(9): e12585. Published online 2010 Sep 7. doi: 10.1371/journal.pone.0012585

PMCID:: PMC2935355

Abstract Article PDF–403K

Select item 744091914.

Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1

Marina Schrecker, Julia Korobenko, Richard K Hite

eLife. 2020; 9: e59555. Published online 2020 Aug 4. doi: 10.7554/eLife.59555

PMCID:: PMC7440919

Abstract Article PDF–9.0M

Select item 311765215.

ClC-7 is a slowly voltage-gated 2Cl⁻/1H⁺-exchanger and requires Ostm1 for transport activity

Lilia Leisle, Carmen F Ludwig, Florian A Wagner, Thomas J Jentsch, Tobias Stauber

EMBO J. 2011 Jun 1; 30(11): 2140–2152. Published online 2011 Apr 28. doi: 10.1038/emboj.2011.137

PMCID:: PMC3117652

Abstract Article PDF–1.6M

Select item 54962416.

Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation

Michael Köttgen, Thomas Benzing, Thomas Simmen, Robert Tauber, Björn Buchholz, Sylvain Feliciangeli, Tobias B Huber, Bernhard Schermer, Albrecht Kramer-Zucker, Katja Höpker, Katia Carmine Simmen, Christoph Carl Tschucke, Richard Sandford, Emily Kim, Gary Thomas, Gerd Walz

EMBO J. 2005 Feb 23; 24(4): 705–716. Published online 2005 Feb 3. doi: 10.1038/sj.emboj.7600566

PMCID:: PMC549624

Abstract Article PDF–519K

Select item 640151217.

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

Yanli Zhang, Dongrui Ji, Lin Li, Shaoqing Yang, Hengwei Zhang, Xiaohong Duan

Theranostics. 2019; 9(5): 1387–1400. Published online 2019 Feb 20. doi: 10.7150/thno.29761

PMCID:: PMC6401512

Abstract Article PDF–2.6M

Select item 772476018.

Comparative multiplexed interactomics of SARS-CoV-2 and homologous coronavirus non-structural proteins identifies unique and shared host-cell dependencies

Jonathan P. Davies, Katherine M. Almasy, Eli F. McDonald, Lars Plate

ACS Infect Dis. Author manuscript; available in PMC 2024 Mar 5.

Published in final edited form as: ACS Infect Dis. 2020 Dec 11; 6(12): 3174–3189. Published online 2020 Dec 2. doi: 10.1021/acsinfecdis.0c00500

PMCID:: PMC7724760

Abstract Article PDF–2.1M

Select item 589142919.

The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics

Thomas O'Loughlin, Thomas A Masters, Folma Buss

EMBO Rep. 2018 Apr; 19(4): e44884. Published online 2018 Feb 21. doi: 10.15252/embr.201744884

PMCID:: PMC5891429

Abstract Article PDF–9.1M

Select item 533550620.

Interactome Analysis Reveals a Novel Role for RAD6 in the Regulation of Proteasome Activity and Localization in Response to DNA Damage

Hongli An, Lu Yang, Chen Wang, Zhixue Gan, Haihui Gu, Tao Zhang, Xin Huang, Yan Liu, Yufeng Li, Shing-Jyh Chang, Jianghua Lai, Ya-Bin Li, Su Chen, Fang-Lin Sun

Mol Cell Biol. 2017 Mar 15; 37(6): e00419-16. Prepublished online 2016 Dec 28. Published online 2017 Mar 1. doi: 10.1128/MCB.00419-16

PMCID:: PMC5335506

Abstract Article PDF–4.8M

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