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Genetic and Small Molecule Modifiers of Lysosomal Function

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Publicaciones

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

Autores: Carreira AC, Pokorna S, Ventura AE, Walker MW, Futerman AH, Lloyd-Evans E, Almeira RFM, Silva LC.
Publicado en: Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, Edición Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, Volume 1866, Edición 8, August 2021, 158944, 2021, ISSN 0006-3002
Editor: 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

Autores: 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
Publicado en: iScience, Edición iScience VOLUME 23, ISSUE 11, 101691, NOVEMBER 20, 2020, 2020, ISSN 2589-0042
Editor: ISCIENCE
DOI: 10.1016/j.isci.2020.101691

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

Autores: 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.
Publicado en: Nucleic Acids Research, Edición Nucleic Acids Research, Volume 48, Edición 12, 09 July 2020, Pages 6824–6838, 2020, Página(s) Pages 6824–6838, ISSN 1362-4962
Editor: Nucleic Acids Research
DOI: 10.1093/nar/gkaa340

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Autores: 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..
Publicado en: Brain Communications, Edición Brain Communications, Volume 3, Edición 1, 2021, fcaa148,, 2020, ISSN 2632-1297
Editor: Brain Communications
DOI: 10.1093/braincomms/fcaa148

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

Autores: Durán A, Rebolledo-Jaramillo B, Olguin V, Rojas-Herrera M, Heras M, Calderón JF, Zanlungo S, Priestman DA, Platt FM, Klein AD
Publicado en: Biochemistry and Biophysics Reports, Edición Biochemistry and Biophysics Reports, Volume 28, December 2021, 101105, 2021, ISSN 2405-5808
Editor: Biochemistry and Biophysics Reports
DOI: 10.1016/j.bbrep.2021.101105

c-Abl activates RIPK3 signaling in Gaucher disease

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

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

Autores: Kaya E, Smith DA, Smith C, Boland B, Strupp M, Platt FM
Publicado en: J Clin Med, Edición J. Clin. Med. 2020, 9(4), 1050, 2020, ISSN 2077-0383
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm9041050

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

Autores: 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.
Publicado en: J Cell Sci, Edición J Cell Sci. (2022);135(1):jcs253591, 2022, ISSN 0021-9533
Editor: The Company of Biologists Ltd.
DOI: 10.1242/jcs.253591

Cholesteryl Hemiazelate Induces Lysosome Dysfunction and Exocytosis in Macrophages

Autores: 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
Publicado en: bioRxiv, Edición bioRxiv, 2021, ISSN 2692-8205
Editor: bioRxiv
DOI: 10.1101/2021.01.05.422575

SUMO conjugation regulates the activity of the Integrator complex

Autores: Bragado L, Magalnik M, Mammi P, Romero A, Gaioli N, Pozzi B, Srebrow A.
Publicado en: bioRxiv, Edición bioRxiv 2022.03.07.483123 (under final review in Nucleic Acids Research), 2022, ISSN 2692-8205
Editor: bioRxiv
DOI: 10.1101/2022.03.07.483123

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