Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hila Gur Michaeli"'
Autor:
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox
Publikováno v:
Human Mutation. 43:2265-2278
BackgroundA rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS and CORVET.
Autor:
Dorit Lev, Lubov Blumkin, Keren Yosovich, Tally Lerman-Sagie, Liat Ben-Sira, Tamar Gur Hartman, Hila Gur Michaeli, Ayelet Zerem
Publikováno v:
neurogenetics. 21:243-249
Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during