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Genetic and Small Molecule Modifiers of Lysosomal Function

Deliverables

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Publications

Biophysical impact of sphingosine and other abnormal lipid accumulation in Niemann-Pick disease type C cell models

Author(s): Carreira AC, Pokorna S, Ventura AE, Walker MW, Futerman AH, Lloyd-Evans E, Almeira RFM, Silva LC.
Published in: Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, Issue Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, Volume 1866, Issue 8, August 2021, 158944, 2021, ISSN 0006-3002
Publisher: Biochimica et Biophysica Acta (BBA)
DOI: 10.1016/j.bbalip.2021.158944

c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder

Author(s): Contreras PS, Tapia PJ, González-Hódar L, Peluso I, Soldati C, Napolitano G, Matarese M, Heras M, Valls C, Martinez A, Balboa E, Castro J, Leal N, Platt FM, Sobota A, Winter D, Klein AD, Medina DL, Ballabio A, Alvarez A, Zanlungo S
Published in: iScience, Issue iScience VOLUME 23, ISSUE 11, 101691, NOVEMBER 20, 2020, 2020, ISSN 2589-0042
Publisher: ISCIENCE
DOI: 10.1016/j.isci.2020.101691

Dengue virus targets RBM10 deregulating host cell splicing and innate immune response

Author(s): Pozzi B, Bragado L, Mammi P, Torti MF, Gaioli N, Gebhard LG, Solá MEG, Vaz-Drago R, Iglesias NG, García CC, Gamarnik AV, Srebrow A.
Published in: Nucleic Acids Research, Issue Nucleic Acids Research, Volume 48, Issue 12, 09 July 2020, Pages 6824–6838, 2020, Page(s) Pages 6824–6838, ISSN 1362-4962
Publisher: Nucleic Acids Research
DOI: 10.1093/nar/gkaa340

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Author(s): Kaya E, Smith DA, Smith C, Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM..
Published in: Brain Communications, Issue Brain Communications, Volume 3, Issue 1, 2021, fcaa148,, 2020, ISSN 2632-1297
Publisher: Brain Communications
DOI: 10.1093/braincomms/fcaa148

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity.

Author(s): Durán A, Rebolledo-Jaramillo B, Olguin V, Rojas-Herrera M, Heras M, Calderón JF, Zanlungo S, Priestman DA, Platt FM, Klein AD
Published in: Biochemistry and Biophysics Reports, Issue Biochemistry and Biophysics Reports, Volume 28, December 2021, 101105, 2021, ISSN 2405-5808
Publisher: Biochemistry and Biophysics Reports
DOI: 10.1016/j.bbrep.2021.101105

c-Abl activates RIPK3 signaling in Gaucher disease

Author(s): Yañez MJ, Campos F, Marín T, Klein AD, Futerman AH, Alvarez AR, Zanlungo S.
Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Issue Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1867, Issue 5, 1 May 2021, 166089, 2021, ISSN 0925-4439
Publisher: Elsevier BV
DOI: 10.1016/j.bbadis.2021.166089

Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease.

Author(s): Kaya E, Smith DA, Smith C, Boland B, Strupp M, Platt FM
Published in: J Clin Med, Issue J. Clin. Med. 2020, 9(4), 1050, 2020, ISSN 2077-0383
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm9041050

Smaug1 membrane-less organelles respond to AMPK and mTOR and affect mitochondrial function

Author(s): Fernández-Alvarez AJ, Gabriela Thomas M, Pascual ML, Habif M, Pimentel J, Corbat AA, Pessoa JP, La Spina PE, Boscaglia L, Plessis A, Carmo-Fonseca M, Grecco HE, Casado M, Boccaccio GL.
Published in: J Cell Sci, Issue J Cell Sci. (2022);135(1):jcs253591, 2022, ISSN 0021-9533
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/jcs.253591

Cholesteryl Hemiazelate Induces Lysosome Dysfunction and Exocytosis in Macrophages

Author(s): Domingues N, Calado RDA, Brito PH, Matthiesen R, Ramalho J, Soares MIL, Pereira T, Oliveira L, Vicente JR, Wong LH, Cho SM, Simões ICM, Sampaio J, Klose C, Surma MA, Almeida MS, Rodrigues G, Araújo-Gonçalves P, Ferreira J, Simons K, Pinho e Melo TMVD, Peden A, Almeida CG, Futter CE, Futerman AH, Vaz WLC, Vieira OV
Published in: bioRxiv, Issue bioRxiv, 2021, ISSN 2692-8205
Publisher: bioRxiv
DOI: 10.1101/2021.01.05.422575

SUMO conjugation regulates the activity of the Integrator complex

Author(s): Bragado L, Magalnik M, Mammi P, Romero A, Gaioli N, Pozzi B, Srebrow A.
Published in: bioRxiv, Issue bioRxiv 2022.03.07.483123 (under final review in Nucleic Acids Research), 2022, ISSN 2692-8205
Publisher: bioRxiv
DOI: 10.1101/2022.03.07.483123

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