Literature DB >> 21729776

A feedforward loop links Gaucher and Parkinson's diseases?

Mark R Cookson1.   

Abstract

Mutations in the GBA gene that encodes glucocerebrosidase cause the lysosomal storage disorder Gaucher disease but also increase the risk for Parkinson's disease. Mazzulli et al. (2011) uncover a possible mechanism to explain this connection: loss of glucocerebrosidase creates a positive feedback loop of reduced lysosomal function and α-synuclein accumulation, ultimately leading to neurodegeneration.
Copyright © 2011 Elsevier Inc. All rights reserved.

Entities:  

Year:  2011        PMID: 21729776     DOI: 10.1016/j.cell.2011.06.031

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  6 in total

1.  Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:  Dorota Monies; Mohammed Abouelhoda; Mirna Assoum; Nabil Moghrabi; Rafiullah Rafiullah; Naif Almontashiri; Mohammed Alowain; Hamad Alzaidan; Moeen Alsayed; Shazia Subhani; Edward Cupler; Maha Faden; Amal Alhashem; Alya Qari; Aziza Chedrawi; Hisham Aldhalaan; Wesam Kurdi; Sameena Khan; Zuhair Rahbeeni; Maha Alotaibi; Ewa Goljan; Hadeel Elbardisy; Mohamed ElKalioby; Zeeshan Shah; Hibah Alruwaili; Amal Jaafar; Ranad Albar; Asma Akilan; Hamsa Tayeb; Asma Tahir; Mohammed Fawzy; Mohammed Nasr; Shaza Makki; Abdullah Alfaifi; Hanna Akleh; Suad Yamani; Dalal Bubshait; Mohammed Mahnashi; Talal Basha; Afaf Alsagheir; Musad Abu Khaled; Khalid Alsaleem; Maisoon Almugbel; Manal Badawi; Fahad Bashiri; Saeed Bohlega; Raashida Sulaiman; Ehab Tous; Syed Ahmed; Talal Algoufi; Hamoud Al-Mousa; Emadia Alaki; Susan Alhumaidi; Hadeel Alghamdi; Malak Alghamdi; Ahmed Sahly; Shapar Nahrir; Ali Al-Ahmari; Hisham Alkuraya; Ali Almehaidib; Mohammed Abanemai; Fahad Alsohaibaini; Bandar Alsaud; Rand Arnaout; Ghada M H Abdel-Salam; Hasan Aldhekri; Suzan AlKhater; Khalid Alqadi; Essam Alsabban; Turki Alshareef; Khalid Awartani; Hanaa Banjar; Nada Alsahan; Ibraheem Abosoudah; Abdullah Alashwal; Wajeeh Aldekhail; Sami Alhajjar; Sulaiman Al-Mayouf; Abdulaziz Alsemari; Walaa Alshuaibi; Saeed Altala; Abdulhadi Altalhi; Salah Baz; Muddathir Hamad; Tariq Abalkhail; Badi Alenazi; Alya Alkaff; Fahad Almohareb; Fuad Al Mutairi; Mona Alsaleh; Abdullah Alsonbul; Somaya Alzelaye; Shakir Bahzad; Abdulaziz Bin Manee; Ola Jarrad; Neama Meriki; Bassem Albeirouti; Amal Alqasmi; Mohammed AlBalwi; Nawal Makhseed; Saeed Hassan; Isam Salih; Mustafa A Salih; Marwan Shaheen; Saadeh Sermin; Shamsad Shahrukh; Shahrukh Hashmi; Ayman Shawli; Ameen Tajuddin; Abdullah Tamim; Ahmed Alnahari; Ibrahim Ghemlas; Maged Hussein; Sami Wali; Hatem Murad; Brian F Meyer; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2019-05-23       Impact factor: 11.025

2.  Emerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's disease.

Authors:  Ryan P McGlinchey; Jennifer C Lee
Journal:  Biochem Soc Trans       Date:  2013-12       Impact factor: 5.407

3.  A GCase chaperone improves motor function in a mouse model of synucleinopathy.

Authors:  Franziska Richter; Sheila M Fleming; Melanie Watson; Vincent Lemesre; Lee Pellegrino; Brian Ranes; Chunni Zhu; Farzad Mortazavi; Caitlin K Mulligan; Pedrom C Sioshansi; Sindalana Hean; Krystal De La Rosa; Richie Khanna; John Flanagan; David J Lockhart; Brandon A Wustman; Sean W Clark; Marie-Françoise Chesselet
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

4.  Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease.

Authors:  Jianshe Wei; Yoshiki Takamatsu; Ryoko Wada; Masayo Fujita; Gilbert Ho; Eliezer Masliah; Makoto Hashimoto
Journal:  Biomolecules       Date:  2021-02-15

Review 5.  Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Authors:  Norelle C Wildburger; Anna-Sophia Hartke; Alina Schidlitzki; Franziska Richter
Journal:  Front Cell Dev Biol       Date:  2020-11-17

Review 6.  Gene Therapy to Modulate Alpha-Synuclein in Synucleinopathies.

Authors:  Ivette M Sandoval; David J Marmion; Kimberly T Meyers; Fredric P Manfredsson
Journal:  J Parkinsons Dis       Date:  2021       Impact factor: 5.568

  6 in total

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