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Select item 99530401.

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder

Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann

Int J Mol Sci. 2023 Feb; 24(3): 1874. Published online 2023 Jan 18. doi: 10.3390/ijms24031874

PMCID:: PMC9953040

Abstract Article PDF–3.8M

Select item 80771852.

VPS13D promotes peroxisome biogenesis

Heather A. Baldwin, Chunxin Wang, Gil Kanfer, Hetal V. Shah, Antonio Velayos-Baeza, Marija Dulovic-Mahlow, Norbert Brüggemann, Allyson Anding, Eric H. Baehrecke, Dragan Maric, William A. Prinz, Richard J. Youle

J Cell Biol. 2021 May 3; 220(5): e202001188. Published online 2021 Apr 23. doi: 10.1083/jcb.202001188

PMCID:: PMC8077185

Abstract Article PDF–8.0M

Select item 70571073.

Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama

Mol Genet Genomic Med. 2020 Mar; 8(3): e1108. Published online 2019 Dec 26. doi: 10.1002/mgg3.1108

PMCID:: PMC7057107

Abstract Article PDF–486K

Select item 67388364.

VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock

Taka-aki Nakada, John H. Boyd, James A. Russell, Rosalía Aguirre-Hernández, Mark D. Wilkinson, Simone A. Thair, Emiri Nakada, Melissa K. McConechy, Christopher D. Fjell, Keith R. Walley

J Innate Immun. 2015 Aug; 7(5): 545–553. Published online 2015 Apr 17. doi: 10.1159/000381265

PMCID:: PMC6738836

Abstract Article PDF–341K

Select item 83517405.

VPS13D interacts with VCP/p97 and negatively regulates endoplasmic reticulum–mitochondria interactions

Yuanjiao Du, Jingru Wang, Juan Xiong, Na Fang, Wei-Ke Ji

Mol Biol Cell. 2021 Aug 1; 32(16): 1474–1486. doi: 10.1091/mbc.E21-03-0097

PMCID:: PMC8351740

Abstract Article PDF–2.7M

Select item 79026316.

An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D−TSG101 interactions

Jingru Wang, Na Fang, Juan Xiong, Yuanjiao Du, Yue Cao, Wei-Ke Ji

Nat Commun. 2021; 12: 1252. Published online 2021 Feb 23. doi: 10.1038/s41467-021-21525-5

PMCID:: PMC7902631

Abstract Article PDF–6.7M

Select item 80771847.

VPS13D bridges the ER to mitochondria and peroxisomes via Miro

Andrés Guillén-Samander, Marianna Leonzino, Michael G. Hanna, IV, Ni Tang, Hongying Shen, Pietro De Camilli

J Cell Biol. 2021 May 3; 220(5): e202010004. Published online 2021 Apr 23. doi: 10.1083/jcb.202010004

Correction in:: J Cell Biol. 2021 Aug 2; 220(8): e20201000405052021c.

PMCID:: PMC8077184

Abstract Article PDF–5.5M

Select item 79879958.

The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling

Yanyan Zhang, Baohua Li, Qiang Bai, Pengcheng Wang, Gang Wei, Zhirong Li, Li Hu, Qin Tian, Jing Zhou, Qizhao Huang, Zhiming Wang, Shuai Yue, Jialin Wu, Liuqing Yang, Xinyuan Zhou, Lubin Jiang, Ting Ni, Lilin Ye, Yuzhang Wu

Signal Transduct Target Ther. 2021; 6: 126. Published online 2021 Mar 24. doi: 10.1038/s41392-021-00492-9

PMCID:: PMC7987995

Abstract Article PDF–5.5M

Select item 61053799.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z. Li, Tamison Jewett, Anneke J.A. Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine Collins, Katja Lohmann, Bart P. van de Warrenburg, Margit Burmeister

Ann Neurol. Author manuscript; available in PMC 2019 Jun 30.

Published in final edited form as: Ann Neurol. 2018 Jun; 83(6): 1075–1088. Published online 2018 Jun 30. doi: 10.1002/ana.25220

PMCID:: PMC6105379

Abstract Article PDF–1.5M

Select item 706811810.

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13

Samantha K Dziurdzik, Björn D M Bean, Michael Davey, Elizabeth Conibear

Hum Mol Genet. 2020 Mar 13; 29(4): 635–648. Published online 2020 Jan 15. doi: 10.1093/hmg/ddz318

PMCID:: PMC7068118

Abstract Article PDF–1.5M

Select item 831908111.

Vmp1, Vps13D and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease

James L. Shen, Tina M. Fortier, Yan G. Zhao, Ruoxi Wang, Margit Burmeister, Eric H. Baehrecke

Curr Biol. Author manuscript; available in PMC 2022 Jul 26.

Published in final edited form as: Curr Biol. 2021 Jul 26; 31(14): 3028–3039.e7. Published online 2021 May 20. doi: 10.1016/j.cub.2021.04.062

PMCID:: PMC8319081

Abstract Article PDF–2.2M

Select item 578703612.

Vps13D encodes a ubiquitin binding protein that is required for the regulation of mitochondrial size and clearance

Allyson L. Anding, Chunxin Wang, Tsun-Kai Chang, Danielle A. Sliter, Christine M. Powers, Kay Hofmann, Richard J. Youle, Eric H. Baehrecke

Curr Biol. Author manuscript; available in PMC 2019 Jan 22.

Published in final edited form as: Curr Biol. 2018 Jan 22; 28(2): 287–295.e6. Published online 2018 Jan 4. doi: 10.1016/j.cub.2017.11.064

PMCID:: PMC5787036

Abstract Article PDF–2.3M

Select item 863966813.

TRIP12 Ubiquitination of Glucocerebrosidase Contributes to Neurodegeneration in Parkinson’s Disease

Bo Am Seo, Donghoon Kim, Heehong Hwang, Min Seong Kim, Shi-Xun Ma, Seung-Hwan Kwon, Sin Ho Kweon, Hu Wang, Je Min Yoo, Seulah Choi, Sang Ho Kwon, Sung-Ung Kang, Tae-In Kam, Kwangsoo Kim, Senthilkumar S Karuppagounder, Bong Gu Kang, Saebom Lee, Hyejin Park, Sangjune Kim, Wei Yan, Yong-Shi Li, Sheng-Han Kuo, Javier Redding-Ochoa, Olga Pletnikova, Juan C. Troncoso, Gabsang Lee, Xiaobo Mao, Valina L. Dawson, Ted M. Dawson, Han Seok Ko

Neuron. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Neuron. 2021 Dec 1; 109(23): 3758–3774.e11. Published online 2021 Oct 12. doi: 10.1016/j.neuron.2021.09.031

PMCID:: PMC8639668

Abstract Article PDF–2.6M

Select item 18754214.

Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs

Manabu Nakayama, Reiko Kikuno, Osamu Ohara

Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902

PMCID:: PMC187542

Abstract Article PDF–374K

Select item 600841015.

Agrin has a pathological role in the progression of oral cancer

César Rivera, Flávia Silva Zandonadi, Celeste Sánchez-Romero, Ciro Dantas Soares, Daniela Campos Granato, Wilfredo Alejandro González-Arriagada, Adriana Franco Paes Leme

Br J Cancer. 2018 Jun 12; 118(12): 1628–1638. Published online 2018 Jun 6. doi: 10.1038/s41416-018-0135-5