Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

ClpB chaperone passively threads soluble denatured proteins through its central pore

(2014) Yosuke Nakazaki et al.   GENES TO CELLS

Escherichia colid-Malate Dehydrogenase, a Generalist Enzyme Active in the Leucine Biosynthesis Pathway

(2014) Anastassia A. Vorobieva et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TMEM70 deficiency: long-term outcome of 48 patients

(2014) Martin Magner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Head-to-tail interactions of the coiled-coil domains regulate ClpB activity and cooperation with Hsp70 in protein disaggregation

(2014) Marta Carroni et al.   eLife

Elements in nucleotide sensing and hydrolysis of the AAA+ disaggregation machine ClpB: a structure-based mechanistic dissection of a molecular motor

(2014) Cathleen Zeymer et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

High-resolution loss of heterozygosity screening implicatesPTPRJas a potential tumor suppressor gene that affects susceptibility to non-hodgkin's lymphoma

(2013) Carlos Aya-Bonilla et al.   GENES CHROMOSOMES & CANCER

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Kidney and eye diseases: common risk factors, etiological mechanisms, and pathways

(2013) Chee Wai Wong et al.   KIDNEY INTERNATIONAL

Protein rescue from aggregates by powerful molecular chaperone machines

(2013) Shannon M. Doyle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Mitochondrial disease—an important cause of end-stage renal failure

(2012) Shamima Rahman et al.   PEDIATRIC NEPHROLOGY

Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer

(2010) Ramprasath Venkatachalam et al.   GASTROENTEROLOGY

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

(2009) Alessio Di Fonzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early endosomes and endosomal coatomer are required for autophagy

(2009) Minoo Razi et al.   JOURNAL OF CELL BIOLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Folding-like-refolding of heat-denatured MDH using unpurified ClpB and DnaKJE

(2007) Rui Nian et al.   BIOCHEMICAL ENGINEERING JOURNAL

Congenital cataracts and their molecular genetics

(2007) J. Fielding Hejtmancik   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY