BALLABIO A.

Last name: BALLABIO A.

2005 (v1)

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The ocular albinism type 1 (OA1) gene controls melanosome maturation and size

CORTESE, KATIA TACCHETTI, CARLO GIORDANO F.

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Uploaded on: April 14, 2023
2005 (v1)

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Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer

SURACE E. M. DOMENICI L. CORTESE, KATIA

X-linked recessive ocular albinism type I (OA1) is due to mutations in the OA1gene (approved gene symbol GPR143), which is expressed in the retinal pigment epithelium (RPE). The Oa1 (Gpr143) knockout mouse (Oa1(-/-)) model recapitulates many of the OA1 retinal morphological anomalies, including a lower number of melanosomes of increased size in...

Uploaded on: May 13, 2023
2008 (v1)

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BlocK of Autophagy in Lysosomal Storage Disorders

SETTEMBRE C. FRALDI A. JAHREISS L.

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Uploaded on: April 14, 2023
1996 (v1)

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The Ocular Albinism type 1 (OA1) gene product is a membrane glycoprotein localized to melanosomes

SCHIAFFINO M. V. BASCHIROTTO C. PELLEGRINI G.

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Uploaded on: December 2, 2022
2008 (v1)

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The Ocular Albinism Type 1 (Oa1) Protein, an intracellular G Protein-Coupled receptor, regulates melanosome transport in pigment cells

PALMISANO I. PALMIGIANO A. INNAMORATI G.

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Uploaded on: March 25, 2023

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