Molecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterations (Q28585860)

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5 January 2020

title

Molecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterations (English)

2 references

31 January 2017

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Purinergic receptor P2X, ligand-gated ion channel, 2

5 January 2020

main subject

1 reference

GOA release 2020-03-11

author

José C García-Borrón

3

1 reference

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Lluis Montoliu

4

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author name string

Alfonso Lavado

1

2 references

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Concepción Olivares

2

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language of work or name

English

0 references

publication date

30 November 2004

1 reference

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Journal of Biological Chemistry

5 January 2020

published in

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volume

280

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issue

6

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page(s)

4817-4824

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Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression.

5 January 2020

cites work

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Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase.

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Mutational analysis of copper binding by human tyrosinase.

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Molecular anatomy of tyrosinase and its related proteins: beyond the histidine-bound metal catalytic center.

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Oculocutaneous albinism type 1: the last 100 years

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Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 January 2018

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A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

21 January 2018

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Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins

21 January 2018

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The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

21 January 2018

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Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.

21 January 2018

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Hermansky-Pudlak syndrome and related disorders of organelle formation

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AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

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Human and mouse disorders of pigmentation

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The color loci of mice--a genetic century

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Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant

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Molecular basis of mouse Himalayan mutation

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Molecular basis of dark-eyed albinism in the mouse

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Expression of the mouse tyrosinase gene during embryonic development: recapitulation of the temporal regulation in transgenic mice

21 January 2018

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Tyrosinase gene expression is not detected in mouse brain outside the retinal pigment epithelium cells

21 January 2018

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The mouse tyrosinase promoter is sufficient for expression in melanocytes and in the pigmented epithelium of the retina

21 January 2018

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Positive and negative elements regulate a melanocyte-specific promoter

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Functional dissection of the mouse tyrosinase locus control region identifies a new putative boundary activity

21 January 2018

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Identification and functional validation of a 5' upstream regulatory sequence in the human tyrosinase gene homologous to the locus control region of the mouse tyrosinase gene

21 January 2018

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A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice.

21 January 2018

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Size matters: use of YACs, BACs and PACs in transgenic animals

21 January 2018

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Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygouschinchilla-mottled mice

21 January 2018

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Variegated expression and delayed retinal pigmentation during development in transgenic mice with a deletion in the locus control region of the tyrosinase gene.

21 January 2018

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Artificial chromosome transgenesis in pigmentary research.

21 January 2018

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Interaction of melanosomal proteins with melanin.

21 January 2018

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Tyrosine hydroxylation catalyzed by mammalian tyrosinase: An improved method of assay

21 January 2018

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Conformation-dependent post-translational glycosylation of tyrosinase. Requirement of a specific interaction involving the CuB metal binding site

21 January 2018

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Chromosome jumping from flanking markers defines the minimal region for alf/hsdr-1 within the albino-deletion complex

21 January 2018

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The 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase activity of human tyrosinase

21 January 2018

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Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice.

21 January 2018

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Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits.

21 January 2018

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Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells

21 January 2018

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Distal upstream tyrosinase S/MAR-containing sequence has regulatory properties specific to subsets of melanocytes.

21 January 2018

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Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle.

21 January 2018

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Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

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The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation

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21 January 2018

Identifiers

DOI

10.1074/JBC.M410399200

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15572362%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

2 references

31 January 2017