Literature DB >> 33419694

Gaucher disease: Basic and translational science needs for more complete therapy and management.

Gregory A Grabowski1, Armand H M Antommaria2, Edwin H Kolodny3, Pramod K Mistry4.   

Abstract

Entities:  

Keywords:  Enzymology; Genetic counseling; Innate Immunity; Lysosomal storage disease; Parkinson disease

Mesh：

Substances：

Year:  2020        PMID： 33419694      PMCID： PMC8809485          DOI： 10.1016/j.ymgme.2020.12.291

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  226 in total

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Authors:  Florent Ginhoux; Martin Guilliams
Journal:  Immunity       Date:  2016-03-15       Impact factor: 31.745

2.  LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.

Authors:  David Reczek; Michael Schwake; Jenny Schröder; Heather Hughes; Judith Blanz; Xiaoying Jin; William Brondyk; Scott Van Patten; Tim Edmunds; Paul Saftig
Journal:  Cell       Date:  2007-11-16       Impact factor: 41.582

3.  CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

Authors:  Thomas A Burrow; Ying Sun; Carlos E Prada; Laurie Bailey; Wujuan Zhang; Amanda Brewer; Steve W Wu; Kenneth D R Setchell; David Witte; Mitchell B Cohen; Gregory A Grabowski
Journal:  Mol Genet Metab       Date:  2014-09-02       Impact factor: 4.797

4.  Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy.

Authors:  G Hermann; J Goldblatt; R N Levy; S J Goldsmith; R J Desnick; G A Grabowski
Journal:  AJR Am J Roentgenol       Date:  1986-11       Impact factor: 3.959

5.  Human brain gangliosides in development, aging and disease.

Authors:  I Kracun; H Rosner; V Drnovsek; M Heffer-Lauc; C Cosović; G Lauc
Journal:  Int J Dev Biol       Date:  1991-09       Impact factor: 2.203

Review 6.  Lysosomes as dynamic regulators of cell and organismal homeostasis.

Authors:  Andrea Ballabio; Juan S Bonifacino
Journal:  Nat Rev Mol Cell Biol       Date:  2019-11-25       Impact factor: 94.444

Review 7.  Systemic inflammation and microglial activation: systematic review of animal experiments.

Authors:  Inge C M Hoogland; Carin Houbolt; David J van Westerloo; Willem A van Gool; Diederik van de Beek
Journal:  J Neuroinflammation       Date:  2015-06-06       Impact factor: 8.322

8.  Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Authors:  Ganqiang Liu; Brendon Boot; Joseph J Locascio; Iris E Jansen; Sophie Winder-Rhodes; Shirley Eberly; Alexis Elbaz; Alexis Brice; Bernard Ravina; Jacobus J van Hilten; Florence Cormier-Dequaire; Jean-Christophe Corvol; Roger A Barker; Peter Heutink; Johan Marinus; Caroline H Williams-Gray; Clemens R Scherzer
Journal:  Ann Neurol       Date:  2016-11       Impact factor: 10.422

Review 9.  mTORC1 as the main gateway to autophagy.

Authors:  Yoana Rabanal-Ruiz; Elsje G Otten; Viktor I Korolchuk
Journal:  Essays Biochem       Date:  2017-12-12       Impact factor: 8.000

Review 10.  The Interplay between the bone and the immune system.

Authors:  Giorgio Mori; Patrizia D'Amelio; Roberta Faccio; Giacomina Brunetti
Journal:  Clin Dev Immunol       Date:  2013-07-14
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  4 in total

1.  Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease.

Authors:  Nathaniel Kleytman; Jiapeng Ruan; Audrey Ruan; Bailin Zhang; Vagishwari Murugesan; Haiqun Lin; Lilu Guo; Katherine Klinger; Pramod K Mistry
Journal:  Mol Genet Metab Rep       Date:  2021-08-28

2.  C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.

Authors:  Albert Frank Magnusen; Reena Rani; Mary Ashley McKay; Shelby Loraine Hatton; Tsitsi Carol Nyamajenjere; Daniel Nii Aryee Magnusen; Jörg Köhl; Gregory Alex Grabowski; Manoj Kumar Pandey
Journal:  Int J Mol Sci       Date:  2021-11-24       Impact factor: 5.923

3.  Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.

Authors:  Chandra Sekhar Boddupalli; Shiny Nair; Glenn Belinsky; Joseph Gans; Erin Teeple; Tri-Hung Nguyen; Sameet Mehta; Lilu Guo; Martin L Kramer; Jiapeng Ruan; Honggge Wang; Matthew Davison; Dinesh Kumar; D J Vidyadhara; Bailin Zhang; Katherine Klinger; Pramod K Mistry
Journal:  Elife       Date:  2022-08-16       Impact factor: 8.713

4.  Microglia orchestrate neuroinflammation.

Authors:  Ricardo A Feldman
Journal:  Elife       Date:  2022-08-22       Impact factor: 8.713
  4 in total

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