M. V. Schiaffino

发表

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

A. Ballabio, G. Pellegrini, M. De Luca, 1996, Proceedings of the National Academy of Sciences of the United States of America.

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

C. Tacchetti, G. Raposo, T. Daniele, 2014, Current Biology.

Organelle biogenesis and interorganellar connections

T. Daniele, M. V. Schiaffino, 2014, Communicative & integrative biology.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

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

A. Ballabio, C. Tacchetti, D. Bennett, 2008, Human molecular genetics.

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

R. Piccirillo, C. Futter, T. Burgoyne, 2013, Journal of cell science.

The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.

R. Piccirillo, G. Innamorati, I. Palmisano, 2006, Pigment cell research.

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary.

T. Daniele, M. V. Schiaffino, 2016, Biochimica et biophysica acta.

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

A. Ballabio, M. De Luca, M. Clementi, 2000, Human molecular genetics.

Signaling pathways in melanosome biogenesis and pathology.

M. V. Schiaffino, 2010, The international journal of biochemistry & cell biology.

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

C. Tacchetti, D. Bennett, C. Goding, 2014, Pigment cell & melanoma research.

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

A. Ballabio, M. Gebbia, R. Lewis, 1995, Nature Genetics.

Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.

M. Marks, D. C. Harper, A. Sitaram, 2009, Molecular biology of the cell.

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

A. Ballabio, K. Cortese, C. Tacchetti, 2000, Human molecular genetics.

NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism

S. Tishkoff, C. Berking, L. Zon, 2021, Cell.

An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1

R. Piccirillo, G. Innamorati, I. Palmisano, 2006, Journal of Cell Science.

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

R. Piccirillo, C. Futter, T. Burgoyne, 2014, Journal of Cell Science.

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

A. Ballabio, E. Dellambra, S. Bondanza, 2002, Human gene therapy.

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

A. Ballabio, C. Tacchetti, D. Bennett, 2017, Human molecular genetics.

The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.

C. Tacchetti, M. V. Schiaffino, 2005, Pigment cell research.

Ocular albinism: evidence for a defect in an intracellular signal transduction system

A. Ballabio, K. Cortese, C. Tacchetti, 1999, Nature Genetics.

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

F. de Nigris, A. Meindl, J. Yates, 1995, Human molecular genetics.

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

D. Lazarević, M. Bannai, Davide Cittaro, 2018, PloS one.

Passport control for foreign integrated DNAs

G. Poli, Giulia Della Chiara, I. Palmisano, 2012, Mobile genetic elements.

Gene transfer in regenerating muscle.

A. Picard, S. Schiaffino, M. Scarpa, 1994, Human gene therapy.

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

A. Mai, R. Piccirillo, G. Casari, 2012, Proceedings of the National Academy of Sciences.

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

E. Rugarli, A. Ballabio, A. Renieri, 1995, Human molecular genetics.

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

A. Ballabio, T. Meitinger, M. Wapenaar, 1994, Human molecular genetics.

A new standard nomenclature for proteins related to Apx and Shroom

A. Ballabio, J. Wallingford, J. Hildebrand, 2006, BMC Cell Biology.

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

C. Futter, M. V. Schiaffino, R. Jolly, 2013, Journal of Cell Science.

AN UNCONVENTIONAL DILEUCINE AND A NOVEL CYTOSOLIC MOTIF ARE REQUIRED FOR THE LYSOSOMAL/MELANOSOMAL TARGETING OF OA1

R. Piccirillo, G. Innamorati, I. Palmisano, 2008 .

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

E. Bianchi, M. Parenti, B. Chini, 2009, Cellular signalling.

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

A. Ballabio, T. Meitinger, B. Lorenz, 2000, Human Genetics.

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

A. C. Chinault, A. Ballabio, H. Zoghbi, 1994, Human molecular genetics.