Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The ubiquitin-proteasome system in melanin metabolism.
Shi J et al.
Journal of Cosmetic Dermatology, 2022
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik T et al.
Acta Chimica Slovenica, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP.
Nguyen QT et al.
The Biochemical Journal, 2019
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.
Bayraktar O et al.
Plos One, 2016
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
Erzurumlu Y et al.
The International Journal of Biochemistry & Cell Biology, 2013
Mutational analysis of TYR gene and its structural consequences in OCA1A.
K B et al.
Gene, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
[New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A].
Aquaron R et al.
Annales De Dermatologie Et De Venereologie, 2009
OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
Chaki M et al.
Annals of Human Genetics, 2006
A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.
Badens C et al.
Journal of Dermatological Science, 2006
Tyrosinase maturation and oligomerization in the endoplasmic reticulum require a melanocyte-specific factor.
Francis E et al.
The Journal of Biological Chemistry, 2003
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.
Halaban R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
Oetting WS et al.
Pigment Cell Research, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Human Molecular Genetics, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Seminars in Dermatology, 1993
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
Oetting WS et al.
Human Mutation, 1993
Structural Details of Ufd1 Binding to p97 and Their Functional Implications in ER-Associated Degradation.
Le LT et al.
Plos One, 0