List of works - Maria Vittoria Schiaffino

A new standard nomenclature for proteins related to Apx and Shroom

scientific article

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

scientific article published on 01 April 1994

Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequences

scientific article published in PLoS ONE

Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)

scientific article

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

scientific article

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

scientific article

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

scientific article

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

scientific article (publication date: 12 December 2000)

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

scientific article (publication date: 2001)

Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes.

scientific article published in May 2002

Expression of OA1 limits the fusion of a subset of MVBs with lysosomes - a mechanism potentially involved in the initial biogenesis of melanosomes

scientific article published on 4 September 2013

Heterotrimeric G proteins demonstrate differential sensitivity to beta-arrestin dependent desensitization.

scientific article published on 9 March 2009

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary

scientific article published on 4 February 2016

Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression

scientific article published on 11 April 2014

Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis

scientific article published on 30 January 2014

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

scientific article published in November 2000

Organelle biogenesis and interorganellar connections: Better in contact than in isolation.

scientific article

Passport control for foreign integrated DNAs: An unexpected checkpoint by class II HDAC4 revealed by amino acid starvation.

scientific article published on September 2012

Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor

scientific article published in December 1998

Signaling pathways in melanosome biogenesis and pathology

scientific article

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

scientific article

List of works by Maria Vittoria Schiaffino

A new standard nomenclature for proteins related to Apx and Shroom

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequences

Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes.

Expression of OA1 limits the fusion of a subset of MVBs with lysosomes - a mechanism potentially involved in the initial biogenesis of melanosomes

Heterotrimeric G proteins demonstrate differential sensitivity to beta-arrestin dependent desensitization.

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary

Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression

Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

Organelle biogenesis and interorganellar connections: Better in contact than in isolation.

Passport control for foreign integrated DNAs: An unexpected checkpoint by class II HDAC4 revealed by amino acid starvation.

Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor

Signaling pathways in melanosome biogenesis and pathology

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells