Literature DB >> 31874412

The emerging link between IP3 receptor turnover and Hereditary Spastic Paraplegia.

Xiaokong Gao1, Richard J H Wojcikiewicz2.   

Abstract

IP3 receptor turnover is mediated by the ubiquitin ligase RNF170, which is recruited to active IP3 receptors by the erlin1/2 complex. A new study by Wagner et al (Nat Commun, 2019) links four cases of Hereditary Spastic Paraplegia to inactivating mutations in RNF170. This increases the number of examples of mutations to the erlin1/2 complex-RNF170 module underlying neurodegenerative disorders.
Copyright © 2019 Elsevier Ltd. All rights reserved.

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Year:  2019        PMID： 31874412      PMCID： PMC7213612          DOI： 10.1016/j.ceca.2019.102142

Source DB:  PubMed          Journal:  Cell Calcium        ISSN： 0143-4160            Impact factor:   6.817


  10 in total

Review 1.  Perilous journey: a tour of the ubiquitin-proteasome system.

Authors:  Gary Kleiger; Thibault Mayor
Journal:  Trends Cell Biol       Date:  2014-01-20       Impact factor: 20.808

2.  RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.

Authors:  Justine P Lu; Yuan Wang; Danielle A Sliter; Margaret M P Pearce; Richard J H Wojcikiewicz
Journal:  J Biol Chem       Date:  2011-05-24       Impact factor: 5.157

3.  The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.

Authors:  Forrest A Wright; Caden G Bonzerato; Danielle A Sliter; Richard J H Wojcikiewicz
Journal:  J Biol Chem       Date:  2018-08-22       Impact factor: 5.157

4.  The Making and Breaking of Inositol 1,4,5-Trisphosphate Receptor Tetramers.

Authors:  Richard J H Wojcikiewicz
Journal:  Messenger (Los Angel)       Date:  2018-06

5.  Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.

Authors:  Youngsoo Kim; Seong Hun Kim; Kook Hwan Kim; Sujin Chae; Chanki Kim; Jeongjin Kim; Hee-Sup Shin; Myung-Shik Lee; Daesoo Kim
Journal:  Hum Mol Genet       Date:  2015-10-03       Impact factor: 6.150

Review 6.  Calcium signaling and molecular mechanisms underlying neurodegenerative diseases.

Authors:  Ekaterina Pchitskaya; Elena Popugaeva; Ilya Bezprozvanny
Journal:  Cell Calcium       Date:  2017-06-30       Impact factor: 6.817

Review 7.  Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.

Authors:  Maryam Erfanian Omidvar; Shahram Torkamandi; Somaye Rezaei; Behnam Alipoor; Mir Davood Omrani; Hossein Darvish; Hamid Ghaedi
Journal:  J Neurol       Date:  2019-11-19       Impact factor: 4.849

8.  A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Authors:  Paul N Valdmanis; Nicolas Dupré; Mathieu Lachance; Shawn J Stochmanski; Veronique V Belzil; Patrick A Dion; Isabelle Thiffault; Bernard Brais; Lyle Weston; Louis Saint-Amant; Mark E Samuels; Guy A Rouleau
Journal:  Brain       Date:  2010-11-28       Impact factor: 13.501

9.  A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.

Authors:  Forrest A Wright; Justine P Lu; Danielle A Sliter; Nicolas Dupré; Guy A Rouleau; Richard J H Wojcikiewicz
Journal:  J Biol Chem       Date:  2015-04-16       Impact factor: 5.157

10.  Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Authors:  Matias Wagner; Daniel P S Osborn; Ina Gehweiler; Maike Nagel; Ulrike Ulmer; Somayeh Bakhtiari; Rim Amouri; Reza Boostani; Faycal Hentati; Maryam M Hockley; Benedikt Hölbling; Thomas Schwarzmayr; Ehsan Ghayoor Karimiani; Christoph Kernstock; Reza Maroofian; Wolfgang Müller-Felber; Ege Ozkan; Sergio Padilla-Lopez; Selina Reich; Jennifer Reichbauer; Hossein Darvish; Neda Shahmohammadibeni; Abbas Tafakhori; Katharina Vill; Stephan Zuchner; Michael C Kruer; Juliane Winkelmann; Yalda Jamshidi; Rebecca Schüle
Journal:  Nat Commun       Date:  2019-10-21       Impact factor: 14.919
  10 in total
  1 in total

Review 1.  Order through destruction: how ER-associated protein degradation contributes to organelle homeostasis.

Authors:  John C Christianson; Pedro Carvalho
Journal:  EMBO J       Date:  2022-02-16       Impact factor: 14.012
  1 in total

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