Barbara Stiller

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Alfredo Ramı́rez, André Heimbach, Jan Gründemann et al. · Nature Genetics · 2006 · 1.2K citations

Alzheimer's Disease, P-type Atpase, Hereditary Parkinsonism +10

Interplay of pathogenic forms of human tau with different autophagic pathways

Benjamı́n Caballero, Yipeng Wang, Antonio Díaz et al. · Aging Cell · 2017 · 220 citations · Full text

Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

Karyn Schmidt, Devin M. Wolfe, Barbara Stiller et al. · Biochemical and Biophysical Research Communications · 2009 · 125 citations · Full text

Human Atp13a2, Cellular Enzymology, Biochemistry +11

Pathogenic effects of novel mutations in the P‐type ATPase <i>ATP13A2</i> ( <i>PARK9</i> ) causing Kufor‐Rakeb syndrome, a form of early‐onset parkinsonism

Jin‐Sung Park, Prachi Mehta, Antony A. Cooper et al. · Human Mutation · 2011 · 114 citations

Genetics, Molecular Biology, Early‐onset Parkinsonism +17

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Simon von Ameln, Geng Wang, Redouane Boulouiz et al. · The American Journal of Human Genetics · 2012 · 97 citations · Full text

Mitochondrial Function, Genetic Disorder, Genetics +7