Cargando…

The Congenital Cataract-Linked A2V Mutation Impairs Tetramer Formation and Promotes Aggregation of βB2-Crystallin

β/γ-Crystallins, the major structural proteins in human lens, are highly conserved in their tertiary structures but distinct in the quaternary structures. The N- and C-terminal extensions have been proposed to play a crucial role in mediating the size of β-crystallin assembly. In this research, we i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Jia, Wang, Sha, Zhao, Wei-Jie, Xi, Yi-Bo, Yan, Yong-Bin, Yao, Ke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516508/ https://www.ncbi.nlm.nih.gov/pubmed/23236454 http://dx.doi.org/10.1371/journal.pone.0051200

Ejemplares similares

The Congenital Cataract-Linked G61C Mutation Destabilizes γD-Crystallin and Promotes Non-Native Aggregation
por: Zhang, Wang, et al.
Publicado: (2011)

Cataract-Causing S93R Mutant Destabilized Structural Conformation of βB1 Crystallin Linking With Aggregates Formation and Cellular Viability
por: Ren, Ling, et al.
Publicado: (2022)

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families
por: Yu, Yinhui, et al.
Publicado: (2021)

Mutation screening of crystallin genes in Chinese families with congenital cataracts
por: Zhuang, Jianfu, et al.
Publicado: (2019)

The genetic landscape of crystallins in congenital cataract
por: Berry, Vanita, et al.
Publicado: (2020)

A Missense Mutation in CRYBB2 Leads to Progressive Congenital Membranous Cataract by Impacting the Solubility and Function of βB2-Crystallin
por: Chen, Weirong, et al.
Publicado: (2013)

A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer
por: Wang, Kai Jie, et al.
Publicado: (2011)

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities
por: Sun, Zixi, et al.
Publicado: (2017)

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract
por: Kumar, Manoj, et al.
Publicado: (2011)

Endoplasmic Reticulum Stress and the Lysosomal Pathway Play Crucial Roles in the Progression of βB2-Crystallin Mutation-Induced Congenital Cataracts in Mice
por: Xiao, Wei, et al.
Publicado: (2023)

Structural and aggregation behavior of the human γD-crystallin mutant E107A, associated with congenital nuclear cataract
por: Vendra, Venkata Pulla Rao, et al.
Publicado: (2010)

A Nonsense Mutation of γD-crystallin Associated with Congenital Nuclear and Posterior Polar Cataract in a Chinese Family
por: Zhai, Yi, et al.
Publicado: (2014)

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1
por: Yu, Yibo, et al.
Publicado: (2012)

Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
por: Zhang, Lu, et al.
Publicado: (2011)

Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes
por: Song, In-Kang, et al.
Publicado: (2020)

α-Crystallin chaperone mimetic drugs inhibit lens γ-crystallin aggregation: Potential role for cataract prevention
por: Islam, Sidra, et al.
Publicado: (2022)

The formation pathway of i-motif tetramers
por: Leroy, Jean-Louis
Publicado: (2009)

Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain
por: Qi, Liang-Bo, et al.
Publicado: (2016)

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)
por: VanderVeen, Deborah K., et al.
Publicado: (2011)

Congenital Cataract Causing Mutants of αA-Crystallin/sHSP Form Aggregates and Aggresomes Degraded through Ubiquitin-Proteasome Pathway
por: Raju, Ilangovan, et al.
Publicado: (2011)

A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
por: Wang, Li, et al.
Publicado: (2011)

The Mutation V42M Distorts the Compact Packing of the Human Gamma-S-Crystallin Molecule, Resulting in Congenital Cataract
por: Vendra, Venkata Pulla Rao, et al.
Publicado: (2012)

A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma
por: Rübsam, Anne, et al.
Publicado: (2017)

Crystallin gene mutations in Indian families with inherited pediatric cataract
por: Devi, Ramachandran Ramya, et al.
Publicado: (2008)

Globular Tetramers of β(2)-Microglobulin Assemble into Elaborate Amyloid Fibrils
por: White, Helen E., et al.
Publicado: (2009)

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts
por: Irum, Bushra, et al.
Publicado: (2016)

A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract
por: Zhang, Li-Yun, et al.
Publicado: (2009)

Pyruvate kinase M2 activators promote tetramer formation and suppress tumorigenesis
por: Anastasiou, Dimitrios, et al.
Publicado: (2012)

Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation
por: Esperante, Sebastián A., et al.
Publicado: (2021)

Different alpha crystallin expression in human age-related and congenital cataract lens epithelium
por: Yang, Jing, et al.
Publicado: (2016)

Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract
por: Nair, Vidya, et al.
Publicado: (2021)

Cataract-Causing Defect of a Mutant γ-Crystallin Proceeds through an Aggregation Pathway Which Bypasses Recognition by the α-Crystallin Chaperone
por: Moreau, Kate L., et al.
Publicado: (2012)

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity
por: AlFadhli, Suad, et al.
Publicado: (2012)

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract
por: Vanita, Vanita, et al.
Publicado: (2009)

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS
por: Dave, Alpana, et al.
Publicado: (2016)

α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation
por: Bartels, Tim, et al.
Publicado: (2011)

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
por: Wang, Kai Jie, et al.
Publicado: (2011)

Inhibitory Effect of Crocin(s) on Lens α-Crystallin Glycation and Aggregation, Results in the Decrease of the Risk of Diabetic Cataract
por: Bahmani, Fereshteh, et al.
Publicado: (2016)

Zinc and Copper Ions Induce Aggregation of Human β-Crystallins
por: Ramirez-Bello, Vanesa, et al.
Publicado: (2022)

Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract
por: Khan, Ismail, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_hq0kckmn02ovtagev0vqvkqemk