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Developmental Cell|June 10, 2014
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasisElena V Polishchuk, Mafalda Concilli, Simona Iacobacci, et al.
Frontiers in Oncology|July 14, 2023
Case report: biallelic DNMT3A mutations in acute myeloid leukemiaCosimo Cumbo, Paola Orsini, Luisa Anelli, et al.
Biochemical Pharmacology|January 5, 2023
Targeting mitochondrial impairment for the treatment of cardiovascular diseases: From hypertension to ischemia-reperfusion injury, searching for new pharmacological targetsSimona Todisco, Biagia Musio, Vito Pesce, et al.
Molecular Therapy. Advances|July 12, 2026
Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiencyAntonio Vicidomini, Florence Boisgerault, Giulia Romano, et al.
Med (New York, N.Y.)|November 15, 2024
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapyAlessandro Rossi, Roberta Romano, Simona Fecarotta, et al.
Plos One|August 6, 2011
Synergistic interactions between HDAC and sirtuin inhibitors in human leukemia cellsMichele Cea, Debora Soncini, Floriana Fruscione, et al.
Leukemia Research|July 19, 2011
Low impact of cardiovascular adverse events on anagrelide treatment discontinuation in a cohort of 232 patients with essential thrombocythemiaLuigi Gugliotta, Alessia Tieghi, Giovanni Tortorella, et al.
Orphanet Journal of Rare Diseases|January 25, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference centerSimona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, et al.
Cell Reports|December 8, 2022
Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneityJoseph E Kaserman, Rhiannon B Werder, Feiya Wang, et al.
American Journal of Human Genetics|August 21, 2012
DUF1220-domain copy number implicated in human brain-size pathology and evolutionLaura J Dumas, Majesta S O'Bleness, Jonathan M Davis, et al.
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