Genetic and Small Molecule Modifiers of Lysosomal Function

Rezultaty

Participation in Rare Diseases Day & Science Days Run ( NTSAD)

Participation in Rare Diseases Day and Science Days Run ( NTSAD)

International Conference
Organization of a summer school in Chile

Project Website Internet-based social media

Project Website and Internet-based social media setup (Twitter, Facebook, LinkedIn).

Publikacje

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

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

Autorzy: 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
Opublikowane w: iScience, Numer iScience VOLUME 23, ISSUE 11, 101691, NOVEMBER 20, 2020, 2020, ISSN 2589-0042
Wydawca: ISCIENCE
DOI: 10.1016/j.isci.2020.101691

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

Autorzy: 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.
Opublikowane w: Nucleic Acids Research, Numer Nucleic Acids Research, Volume 48, Numer 12, 09 July 2020, Pages 6824–6838, 2020, Strona(/y) Pages 6824–6838, ISSN 1362-4962
Wydawca: Nucleic Acids Research
DOI: 10.1093/nar/gkaa340

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Autorzy: 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..
Opublikowane w: Brain Communications, Numer Brain Communications, Volume 3, Numer 1, 2021, fcaa148,, 2020, ISSN 2632-1297
Wydawca: Brain Communications
DOI: 10.1093/braincomms/fcaa148

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

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

c-Abl activates RIPK3 signaling in Gaucher disease

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

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

Autorzy: Kaya E, Smith DA, Smith C, Boland B, Strupp M, Platt FM
Opublikowane w: J Clin Med, Numer J. Clin. Med. 2020, 9(4), 1050, 2020, ISSN 2077-0383
Wydawca: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm9041050

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

Autorzy: 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.
Opublikowane w: J Cell Sci, Numer J Cell Sci. (2022);135(1):jcs253591, 2022, ISSN 0021-9533
Wydawca: The Company of Biologists Ltd.
DOI: 10.1242/jcs.253591

Cholesteryl Hemiazelate Induces Lysosome Dysfunction and Exocytosis in Macrophages

Autorzy: 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
Opublikowane w: bioRxiv, Numer bioRxiv, 2021, ISSN 2692-8205
Wydawca: bioRxiv
DOI: 10.1101/2021.01.05.422575

SUMO conjugation regulates the activity of the Integrator complex

Autorzy: Bragado L, Magalnik M, Mammi P, Romero A, Gaioli N, Pozzi B, Srebrow A.
Opublikowane w: bioRxiv, Numer bioRxiv 2022.03.07.483123 (under final review in Nucleic Acids Research), 2022, ISSN 2692-8205
Wydawca: bioRxiv
DOI: 10.1101/2022.03.07.483123

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