Mutation in humanCLPXelevates levels ofδ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Down-regulation of the mitochondrial matrix peptidase ClpP in muscle cells causes mitochondrial dysfunction and decreases cell proliferation

(2016) Sathyaseelan S. Deepa et al.   FREE RADICAL BIOLOGY AND MEDICINE

Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis

(2016) Yoshiko Kubota et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Polyhydramnios, Transient Antenatal Bartter’s Syndrome, andMAGED2Mutations

(2016) Kamel Laghmani et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Mitochondrial Unfoldase-Peptidase Complex ClpXP Controls Bioenergetics Stress and Metastasis

(2016) Jae Ho Seo et al.   PLOS BIOLOGY

Barrel-shaped ClpP Proteases Display Attenuated Cleavage Specificities

(2015) Malte Gersch et al.   ACS Chemical Biology

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

(2015) D. N. Egan et al.   BLOOD

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability

(2015) Jasmin Barman-Aksözen et al.   BLOOD CELLS MOLECULES AND DISEASES

X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

(2015) Christoph Landefeld et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mitochondrial ClpX Activates a Key Enzyme for Heme Biosynthesis and Erythropoiesis

(2015) Julia R. Kardon et al.   CELL

Mechanistic insights into bacterial AAA+ proteases and protein-remodelling machines

(2015) Adrian O. Olivares et al.   NATURE REVIEWS MICROBIOLOGY

TMEM14C is required for erythroid mitochondrial heme metabolism

(2014) Yvette Y. Yien et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Snx3 Regulates Recycling of the Transferrin Receptor and Iron Assimilation

(2013) Caiyong Chen et al.   Cell Metabolism

Role of genetic testing in the management of patients with inherited porphyria and their families

(2013) S D Whatley et al.   ANNALS OF CLINICAL BIOCHEMISTRY

The porphyrias: advances in diagnosis and treatment

(2012) M. Balwani et al.   BLOOD

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

(2012) Sarah Ducamp et al.   HUMAN MOLECULAR GENETICS

Functional Interactions between Erythroid Kruppel-like Factor (EKLF/KLF1) and Protein Phosphatase PPM1B/PP2Cβ

(2012) Yvette Y. Yien et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ClpXP, an ATP-powered unfolding and protein-degradation machine

(2011) Tania A. Baker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Lon Peptidase 1 (LONP1)-dependent Breakdown of Mitochondrial 5-Aminolevulinic Acid Synthase Protein by Heme in Human Liver Cells

(2011) Qing Tian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Porphyrias

(2010) Hervé Puy et al.   LANCET

Inhibition of eukaryotic translation elongation by cycloheximide and lactimidomycin

(2010) Tilman Schneider-Poetsch et al.   Nature Chemical Biology

Structures of Asymmetric ClpX Hexamers Reveal Nucleotide-Dependent Motions in a AAA+ Protein-Unfolding Machine

(2009) Steven E. Glynn et al.   CELL

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

(2008) Sharon D. Whatley et al.   AMERICAN JOURNAL OF HUMAN GENETICS