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Lysosomal storage diseases: from pathophysiology to therapy.
Parenti G, Andria G, Ballabio A. Parenti G, et al. Annu Rev Med. 2015;66:471-86. doi: 10.1146/annurev-med-122313-085916. Annu Rev Med. 2015. PMID: 25587658 Review.
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.
Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP. Schaaf GJ, et al. Acta Neuropathol Commun. 2018 Nov 7;6(1):119. doi: 10.1186/s40478-018-0620-3. Acta Neuropathol Commun. 2018. PMID: 30404653 Free PMC article.
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Di Fruscio G, et al. Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077. Autophagy. 2015. PMID: 26075876 Free PMC article.
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A. Ferla R, et al. Hum Gene Ther. 2015 Mar;26(3):145-52. doi: 10.1089/hum.2014.109. Hum Gene Ther. 2015. PMID: 25654180 Free PMC article. Clinical Trial.
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D. Rossi A, et al. J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4. Epub 2018 Feb 12. J Inherit Metab Dis. 2018. PMID: 29435782
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.
Melis D, Carbone F, Minopoli G, La Rocca C, Perna F, De Rosa V, Galgani M, Andria G, Parenti G, Matarese G. Melis D, et al. J Immunol. 2017 May 15;198(10):3803-3808. doi: 10.4049/jimmunol.1601946. Epub 2017 Apr 7. J Immunol. 2017. PMID: 28389590 Free PMC article.
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.
Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, Imbriaco M. Pisani A, et al. Mol Genet Metab. 2012 Nov;107(3):267-75. doi: 10.1016/j.ymgme.2012.08.003. Epub 2012 Aug 11. Mol Genet Metab. 2012. PMID: 22963910 Review.
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V, Cobucci-Ponzano B, Iacono R, Ferrara MC, Germany S, Bourne Y, Parenti G, Moracci M, Sulzenbacher G. Roig-Zamboni V, et al. Nat Commun. 2017 Oct 24;8(1):1111. doi: 10.1038/s41467-017-01263-3. Nat Commun. 2017. PMID: 29061980 Free PMC article.
Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
Parenti G, Andria G, Valenzano KJ. Parenti G, et al. Mol Ther. 2015 Jul;23(7):1138-1148. doi: 10.1038/mt.2015.62. Epub 2015 Apr 16. Mol Ther. 2015. PMID: 25881001 Free PMC article. Review.
Pharmacological chaperone therapy for lysosomal storage diseases.
Parenti G, Moracci M, Fecarotta S, Andria G. Parenti G, et al. Future Med Chem. 2014 Jun;6(9):1031-45. doi: 10.4155/fmc.14.40. Future Med Chem. 2014. PMID: 25068986 Review.
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