<scp>TPC2</scp> rescues lysosomal storage in mucolipidosis type <scp>IV</scp> , <scp>Niemann–Pick</scp> type <scp>C1,</scp> and Batten disease-Reference-Cited by-同舟云学术

TPC2 rescues lysosomal storage in mucolipidosis type IV , Niemann–Pick type C1, and Batten disease

Published:2022-08-05 Issue:9 Volume:14 Page:
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Scotto Rosato Anna¹,Krogsaeter Einar K¹^ORCID,Jaślan Dawid¹^ORCID,Abrahamian Carla¹^ORCID,Montefusco Sandro²,Soldati Chiara²,Spix Barbara¹,Pizzo Maria Teresa²,Grieco Giuseppina²,Böck Julia¹,Wyatt Amanda³^ORCID,Wünkhaus Daniela⁴,Passon Marcel¹^ORCID,Stieglitz Marc⁵,Keller Marco⁵^ORCID,Hermey Guido⁶^ORCID,Markmann Sandra⁴,Gruber‐Schoffnegger Doris⁴,Cotman Susan⁷^ORCID,Johannes Ludger⁸^ORCID,Crusius Dennis⁹,Boehm Ulrich³^ORCID,Wahl‐Schott Christian¹⁰,Biel Martin⁵,Bracher Franz⁵,De Leonibus Elvira²¹¹,Polishchuk Elena²,Medina Diego L²¹²^ORCID,Paquet Dominik⁹¹³^ORCID,Grimm Christian¹^ORCID

Affiliation:

1. Faculty of Medicine, Walther Straub Institute of Pharmacology and Toxicology Ludwig‐Maximilians‐Universität Munich Germany

2. Telethon Institute of Genetics and Medicine Naples Italy

3. Experimental Pharmacology, Center for Molecular Signaling (PZMS) Saarland University School of Medicine Homburg Germany

4. Evotec AG Hamburg Germany

5. Department of Pharmacy, Center for Drug Research Ludwig‐Maximilians‐Universität Munich Germany

6. Center for Molecular Neurobiology Hamburg (ZMNH) Institute of Molecular and Cellular Cognition, UKE Hamburg Germany

7. Department of Neurology, Center for Genomic Medicine Massachusetts General Hospital, Harvard Medical School Boston MA USA

8. Cellular and Chemical Biology Department, Institut Curie U1143 INSERM, UMR3666 CNRS, PSL Research University Paris France

9. Institute for Stroke and Dementia Research (ISD) Ludwig‐Maximilians‐University (LMU) Hospital Munich Germany

10. Institute for Neurophysiology Hannover Medical School Hannover Germany

11. Institute of Biochemistry and Cell Biology (IBBC), CNR Rome Italy

12. Medical Genetics Unit, Department of Medical and Translational Science Federico II University Naples Italy

13. Munich Cluster for Systems Neurology (SyNergy) Ludwig‐Maximilians‐University (LMU) Munich Germany

Funder

Mucolipidosis IV Foundation

Stiftung zur Erforschung der Vaskulären Demenz

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202115377

Reference81 articles.

1. Activation of TRPML1 Clears Intraneuronal A in Preclinical Models of HIV Infection

2. Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

3. Lysosomes as a therapeutic target

4. Lysosome signaling controls the migration of dendritic cells

5. Easy quantitative assessment of genome editing by sequence trace decomposition

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