Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

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