Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
出版年份 2015 全文链接
标题
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
作者
关键词
-
出版物
Scientific Reports
Volume 5, Issue 1, Pages -
出版商
Springer Nature
发表日期
2015-11-24
DOI
10.1038/srep17154
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
- (2015) Kevin A. Strauss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome
- (2015) Esra Dikoglu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- Functional Significance of Point Mutations in Stress Chaperone Mortalin and Their Relevance to Parkinson Disease
- (2015) Renu Wadhwa et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The I-TASSER Suite: protein structure and function prediction
- (2015) Jianyi Yang et al. NATURE METHODS
- Human Mitochondrial Hsp70 (Mortalin): Shedding Light on ATPase Activity, Interaction with Adenosine Nucleotides, Solution Structure and Domain Organization
- (2015) Paulo R. Dores-Silva et al. PLoS One
- Crystal structure of the nucleotide-binding domain of mortalin, the mitochondrial Hsp70 chaperone
- (2014) Joseph Amick et al. PROTEIN SCIENCE
- Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
- (2013) Emma M. Jenkinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pharmacological approaches to restore mitochondrial function
- (2013) Pénélope A. Andreux et al. NATURE REVIEWS DRUG DISCOVERY
- Chaperone–protease networks in mitochondrial protein homeostasis
- (2012) Wolfgang Voos BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Multitasking in the mitochondrion by the ATP-dependent Lon protease
- (2011) Sundararajan Venkatesh et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- The expression patterns of heat shock genes and proteins and their role during vertebrate's development
- (2011) Weronika Rupik et al. COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY
- HSP70 decreases receptor-dependent phosphorylation of Smad2 and blocks TGF-β-induced epithelial-mesenchymal transition
- (2011) Yihao Li et al. Journal of Genetics and Genomics
- Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis
- (2010) Lena F. Burbulla et al. HUMAN MOLECULAR GENETICS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Mutational screening of the mortalin gene (HSPA9) in Parkinson’s disease
- (2009) Lorena De Mena et al. JOURNAL OF NEURAL TRANSMISSION
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More