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Literature DB >> 31167121

Lou Gehrig's Disease (ALS): UBQLN2 Mutations Strike Out of Phase.

Nicole Higgins¹, Brian Lin¹, Mervyn J Monteiro².

Abstract

In this issue of Structure, Dao et al. (2019) report that ALS-linked mutations in the Pxx domain of Ubiquilin 2 (UBQLN2) differentially influence the protein's phase separation abilities. The affect is by reducing the temperature and UBQLN2 concentration necessary for liquid-liquid phase separation droplet formation and by modulating UBQLN2 oligomerization.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2019 PMID： 31167121 PMCID： PMC7267892 DOI： 10.1016/j.str.2019.05.006

Source DB: PubMed Journal: Structure ISSN： 0969-2126 Impact factor: 5.006

10 in total

1. Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification.

Authors: Mümine Şentürk; Guang Lin; Zhongyuan Zuo; Dongxue Mao; Emma Watson; Antonios G Mikos; Hugo J Bellen
Journal: Nat Cell Biol Date: 2019-02-25 Impact factor: 28.824

2. Ubiquilin 2 modulates ALS/FTD-linked FUS-RNA complex dynamics and stress granule formation.

Authors: Elizabeth J Alexander; Amirhossein Ghanbari Niaki; Tao Zhang; Jaya Sarkar; Yang Liu; Raja Sekhar Nirujogi; Akhilesh Pandey; Sua Myong; Jiou Wang
Journal: Proc Natl Acad Sci U S A Date: 2018-11-15 Impact factor: 11.205

3. Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS-FTD-linked UBQLN2 mutations.

Authors: Nhat T T Le; Lydia Chang; Irina Kovlyagina; Polymnia Georgiou; Nathaniel Safren; Kerstin E Braunstein; Mark D Kvarta; Adam M Van Dyke; Tara A LeGates; Thomas Philips; Brett M Morrison; Scott M Thompson; Adam C Puche; Todd D Gould; Jeffrey D Rothstein; Philip C Wong; Mervyn J Monteiro
Journal: Proc Natl Acad Sci U S A Date: 2016-11-09 Impact factor: 11.205

4. ALS-Linked Mutations Affect UBQLN2 Oligomerization and Phase Separation in a Position- and Amino Acid-Dependent Manner.

Authors: Thuy P Dao; Brian Martyniak; Ashley J Canning; Yongna Lei; Erica G Colicino; Michael S Cosgrove; Heidi Hehnly; Carlos A Castañeda
Journal: Structure Date: 2019-04-11 Impact factor: 5.006

5. Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.

Authors: George H Gorrie; Faisal Fecto; Daniel Radzicki; Craig Weiss; Yong Shi; Hongxin Dong; Hong Zhai; Ronggen Fu; Erdong Liu; Sisi Li; Hasan Arrat; Eileen H Bigio; John F Disterhoft; Marco Martina; Enrico Mugnaini; Teepu Siddique; Han-Xiang Deng
Journal: Proc Natl Acad Sci U S A Date: 2014-09-22 Impact factor: 11.205

6. Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly.

Authors: Lisa M Sharkey; Nathaniel Safren; Amit S Pithadia; Julia E Gerson; Mark Dulchavsky; Svetlana Fischer; Ronak Patel; Gabrielle Lantis; Naila Ashraf; John H Kim; Alia Meliki; Eiko N Minakawa; Sami J Barmada; Magdalena I Ivanova; Henry L Paulson
Journal: Proc Natl Acad Sci U S A Date: 2018-10-17 Impact factor: 11.205

7. Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions.

Authors: Thuy P Dao; Regina-Maria Kolaitis; Hong Joo Kim; Kevin O'Donovan; Brian Martyniak; Erica Colicino; Heidi Hehnly; J Paul Taylor; Carlos A Castañeda
Journal: Mol Cell Date: 2018-03-08 Impact factor: 17.970

8. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Authors: Han-Xiang Deng; Wenjie Chen; Seong-Tshool Hong; Kym M Boycott; George H Gorrie; Nailah Siddique; Yi Yang; Faisal Fecto; Yong Shi; Hong Zhai; Hujun Jiang; Makito Hirano; Evadnie Rampersaud; Gerard H Jansen; Sandra Donkervoort; Eileen H Bigio; Benjamin R Brooks; Kaouther Ajroud; Robert L Sufit; Jonathan L Haines; Enrico Mugnaini; Margaret A Pericak-Vance; Teepu Siddique
Journal: Nature Date: 2011-08-21 Impact factor: 49.962

9. Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations.

Authors: Lydia Chang; Mervyn J Monteiro
Journal: PLoS One Date: 2015-06-15 Impact factor: 3.240

10. Mutant UBQLN2^P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats.

Authors: Tianhong Chen; Bo Huang; Xinglong Shi; Limo Gao; Cao Huang
Journal: Acta Neuropathol Commun Date: 2018-11-08 Impact factor: 7.801

10 in total

8 in total

Review 1. Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery.

Authors: Tongyin Zheng; Yiran Yang; Carlos A Castañeda
Journal: Biochem J Date: 2020-09-30 Impact factor: 3.857

2. ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.

Authors: Josephine J Wu; Ashley Cai; Jessie E Greenslade; Nicole R Higgins; Cong Fan; Nhat T T Le; Micaela Tatman; Alexandra M Whiteley; Miguel A Prado; Birger V Dieriks; Maurice A Curtis; Christopher E Shaw; Teepu Siddique; Richard L M Faull; Emma L Scotter; Daniel Finley; Mervyn J Monteiro
Journal: Proc Natl Acad Sci U S A Date: 2020-06-08 Impact factor: 11.205

3. ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import.

Authors: Brian C Lin; Trong H Phung; Nicole R Higgins; Jessie E Greenslade; Miguel A Prado; Daniel Finley; Mariusz Karbowski; Brian M Polster; Mervyn J Monteiro
Journal: Hum Mol Genet Date: 2021-06-17 Impact factor: 6.150