List of works - Maria Vittoria Schiaffino

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

scientific article

Signaling pathways in melanosome biogenesis and pathology

scientific article

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

scientific article

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

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)

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

scientific article published in November 2000

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

scientific article published on 30 January 2014

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

scientific article

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)

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

scientific article

A new standard nomenclature for proteins related to Apx and Shroom

scientific article

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

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

scientific article

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

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

scientific article published in May 2002

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

scientific article published on 01 April 1994

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

scientific article published on 9 March 2009

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

scientific article published in December 1998

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

scientific article published on September 2012

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

List of works by Maria Vittoria Schiaffino

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

Signaling pathways in melanosome biogenesis and pathology

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

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

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

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

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

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

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

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

A new standard nomenclature for proteins related to Apx and Shroom

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

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

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary

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

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

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

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

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

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

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