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Lipid-mediated control of the TMEM16A Ca2+- gated Cl- channel by the lysosomal NPC1 protein

Conference paper

Scofano LF. et al, (2021), BRITISH JOURNAL OF PHARMACOLOGY, 178, 414 - 414

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

Journal article

Contreras PS. et al, (2020), iScience, 23

Defective platelet function in Niemann-Pick disease type C1.

Journal article

Chen OCW. et al, (2020), JIMD Rep, 56, 46 - 57

Acetyl-Leucine slows disease progression in lysosomal storage disorders

Journal article

PLATT F. et al, (2020), Brain Communications

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.

Journal article

Colaco A. et al, (2020), Life Sci Alliance, 3

Defective Platelet Function in Niemann-Pick disease type C1

Journal article

COLACO A. and PLATT F., (2020), JIMD Communications

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

Journal article

Colaco A. et al, (2020), J Inherit Metab Dis, 43, 574 - 585

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

Journal article

PLATT F. et al, (2020), Journal of Clinical Medicine

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.

Journal article

Viana GM. et al, (2020), J Clin Med, 9

Targeting GLB1 in mice by CRISPR/Cas9 genome editing: Establishing a novel model for type II GM1 gangliosidosis

Conference paper

Nicoli E-R. et al, (2020), MOLECULAR GENETICS AND METABOLISM, 129, S116 - S116

Brain pathology in MPS patients with neurological forms

Journal article

PRIESTMAN D. and PLATT F., (2020), Journal of Clinical Medicine

Genetic Background Modifies Phenotypic Severity and Longevity in a Mouse Model of Niemann-Pick Disease Type C1

Journal article

PLATT F. and HUEBECKER M., (2020), Disease Models and Mechanisms

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