1. Aits S., Jäättelä M., Nylandsted J. Methods for the quantification of lysosomal membrane permeabilization: a hallmark of lysosomal cell death // Methods Cell Biol. 2015. 126. 261–285.
2. Ballabio A., Naldini L. Fighting rare diseases: the model of the telethon research institutes in Italy // Hum. Gene Ther. 2015. 26. (4). 183-185.
3. Bartolomeo R., Salzano A.C., Settembre C. Identification of molecular targets for the treatment of the skeletal phenotype in Lysosomal Storage Disorders // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 26.
4. Blomqvist M., Lindgren J., Olsson L. et al. Validation of an NGS-panel for routine diagnosis of lysosomal and peroxisomal disorders // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 61.
5. Brandenstain L., Schweizer M., Sedlacik J. et al. Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7 2015 // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 27.
6. Canals I., Beneto N., Cozar M. et al. EXTL2 and EXTL3 inhibition with siRNA as a promising substrate reduction therapy for Sanfilippo C syndrome // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 127.
7. Ceccarini M.R., Paciotti S., Tasegian A. et al. Cerebrospinal fluid lysosomal enzymes in Parkinson disease // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 65.
8. Cox T.M. Innovative treatments for lysosomal diseases // Best Pract. Res. Clin. Endocrinol. Metab. 2015. 29. (2). 275–311.
9. DiFruscio G., Schulz A., De Cegli R. et al. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway// Autophagy. 2015. 11. (6). 928–938.
10. Ellison S., Sergijenko A., Langford-Smith A. et al. Pre-clinical workup of lentiviral mediated stem cell gene therapy for Mucopolysaccharidosis type IIIA // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 77.
11. Ferla R., Alliegro M.L., Nusco E. et al. Combination of low-dose gene therapy and monthly enzyme replacement therapy improves the phenotype of a mouse model of lysosomal storage disease // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 79.
12. Ferri L., Malesci D., Filippini A. et al. The challenge of significance of new GLA gene variations: the importance of functional studies Course. Naples, 2015 // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 80.
13. Gleitz H., O’Leavy C., Holley R., Bigger B. Development of a lentiviral-based gene therapy for Mucopolysaccharidosis II // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 83.
14. Gonzales A., Jagdmann S., Saftig P., Damme M. Pld3 – A new lysosomal protein implicated in Alzheimer’s disease // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 30.
15. Jäättelä M., Nylandsted J. Methods for probing lysosomal membrane permeabilization // Cold Spring Harb. Protoc. 2015. (11). 975–978.
16. Kirkegaard T., Gray J., Priestman D.A. et al. Development of Heat Shock Protein based therapies for Lysosomal Storage Diseases // 20th ESGLD Work shop and Graduated Course. Naples, 2015. 89.
17. Kirkegaard T., Gray J., Petersen N.H.T. et al. Hsp70-based therapies as clinical candidates for lysosomal storage disesases // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 81.
18. Klumperman J., Jobling R., ten Brink C. et al. Mutations of Vps41, encoding a regulator of lysosomal fusion events, cause a Parkinson-like phenotype and reduction in cellular LAMP levels // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 36.
19. Korolenko T.A., Johnson T., Goncharova N.V., Pisareva E.E., Filjushina E.E., Chrapova M.V. Intracellular lipid storage syndrome (lipidosis) following prolonged treatment of Poloxamer 407 in mice // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 90.
20. Krambeck S., Markmann S., Damme M., Braulke T. Mannose-6-phosphate-independent transport of lysosomal enzymes in liver cells // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 91.
21. Maor G., Zalesca O., Segal D., Horowitz M. The contribution of mutant Gba alleles to the development of Parkinson’s disease in carriers of Gaucher disease mutations // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 33.
22. Mitchell N.L., Wicky H.E., Schoderbock L. et al. Viral-mediated gene therapy prevents disease development in avine models of neuronal ceroid lipofuscinosis // 20th ESGLD Workshop and Grad. Course. Naples, 2015. 42.
23. Nelvagal H.R., Dmytrus J., Dearbon J. et al. Defining spinal cord neuropathology in a mouse of Infantile Neuronal CeroisLipofuscinosis (INCL) and accessing the efficacy of inthrathecal Enzyme Replacement Therapy (ERT) // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 29.
24. O’Leary C., Antunes A.S.L., Parker H. et al. Development of an adeno-associated viral mediated gene therapy approach for Mucopolysaccharidosis IIIC // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 107.
25. Pupyshev A.B., Korolenko T.A., Tikhonova M.A. Osmotic behavior of lysosomes as an index of autophagy in cellular lipid overloading and experimental treatment of early senescence // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 112.
26. Raimo S., Tsuji D., Spampanato C. et al. A physiological role of TFEB in LSDs // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 48.
27. Rigon L., Salvalaio M., Pederzoli F. et al. Enzyme-loaded nanoparticles: a potential therapy for the neurological compartment in Mucopolysaccharidosis type II // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 113.
28. Ron I., Rapaport D., Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease // Hum. Mol. Genet. 2010. 19. (19). 3771–3781.
29. Rouviere L., Niemir N., Besse A. et al. Intravenous AAV9-mediated gene transfer prevents pathology in neonatal Sandhoff mice // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 114.
30. Rubinsztein D.C., Bento C.F., Deretic V. Therapeutic targeting of autophagy in neurodegenerative and infectious diseases // J. Exp. Med. 2015. 212. (7). 979–990.
31. Sambri I., D’Alessio R., Ezhova Y. et al. Lysosomal dysfunction disrupts presynaptic maintenance in neurodegenerative diseases through a α-synuclein and CSPα-dependent pathway// 20th ESGLD Workshop and Graduated Co Course. Naples, 2015. 49.
32. Tasegian A., Paciotti S., Ceccarini M.R. et al. Origin of α-mannosidase in cerebrospinal fluid // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 121.
33. Tarallo A., Gatto F., Karali M. et al. Analysis of circulating and tissue-specific microRNAs in Pompe disease // 20th ESGLD Workshop and Graduated Course. Naples, 2015. 110.
34. Von Figura K. Structure-function relationship for lysosomal enzymes // Acta Paediatr. 2007. 96. (455). 5.