Maria A. Praggastis

Characterization of a Novel NPC 1 I 1061 T Knockin Mouse Model of Niemann-Pick Type C 1 Disease

Maria A. Praggastis, 2017 .

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

F. Maxfield, D. Ory, J. Schaffer, 2015, The Journal of Neuroscience.

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

D. Grimm, H. Runz, D. Ory, 2016, Human molecular genetics.

Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies

A. Murphy, C. Kyratsous, N. Gale, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

D. Grimm, H. Runz, D. Ory, 2016, Human molecular genetics.

Targeted delivery of acid alpha-glucosidase corrects skeletal muscle phenotypes in Pompe disease mice

A. Murphy, C. Kyratsous, N. Gale, 2020, bioRxiv.