Marialetizia Motta

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

Anna Maria Vaccaro, Marialetizia Motta, Massimo Tatti et al. · Human Molecular Genetics · 2010 · 106 citations

Life Sciences, Biochemistry, Molecular Biology +16

Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Marialetizia Motta, Miray Fidan, Emanuele Bellacchio et al. · Human Molecular Genetics · 2018 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 95 citations · Full text

Medicine, Molecular Genetics, Neuroscience +16

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11