Roberta Tammaro

发表

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

V. Belcastro, A. Boletta, M. Pende, 2017, Scientific Reports.

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides

A. Ballabio, S. Bondanza, M. De Luca, 2006, Human mutation.

OFD1 : One gene, several disorders

Roberta Tammaro, B. Franco, Nunziana Pezzella, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development

Roberta Tammaro, B. Franco, M. Studer, 2012, PloS one.

Ofd1 is required in limb bud patterning and endochondral bone development.

M. Ascenzi, Roberta Tammaro, B. Franco, 2011, Developmental biology.

Apoptosis in retinal degeneration involves cross-talk between apoptosis-inducing factor (AIF) and caspase-12 and is blocked by calpain inhibitors

Roberta Tammaro, V. Marigo, Daniela Sanges, 2006, Proceedings of the National Academy of Sciences.

Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma.

G. Madonna, P. Ascierto, G. Ciliberto, 2022, Cell reports.

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

S. Gustincich, S. Zucchelli, Roberta Tammaro, 2016, Scientific Reports.

miR‐181a/b downregulation exerts a protective action on mitochondrial disease models

M. Zeviani, R. Flavell, Roberta Tammaro, 2019, EMBO molecular medicine.

The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.

Daniela Iaconis, Roberta Tammaro, B. Franco, 2020, Tissue & cell.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

Ofd1 is required in limb bud patterning and endochondral bone development.

M. Ascenzi, Roberta Tammaro, B. Franco, 2011, Developmental biology.

Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates

P. Bovolenta, V. Tiranti, M. Zeviani, 2012 .