Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

(2015) Charalampos Tzoulis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Thei-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

(2014) Ruchika Anand et al.   JOURNAL OF CELL BIOLOGY

Upregulation of mitochondrial protease HtrA2/Omi contributes to manganese-induced neuronal apoptosis in rat brain striatum

(2014) J.K. Jiang et al.   NEUROSCIENCE

Neural-Specific Deletion of Htra2 Causes Cerebellar Neurodegeneration and Defective Processing of Mitochondrial OPA1

(2014) Victoria L. Patterson et al.   PLoS One

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HtrA2/Omi deficiency causes damage and mutation of mitochondrial DNA

(2013) Hui-Gwan Goo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

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

Loss of HtrA2/Omi activity in non-neuronal tissues of adult mice causes premature aging

(2012) S Kang et al.   CELL DEATH AND DIFFERENTIATION

Mitochondrial quality control: a matter of life and death for neurons

(2012) Elena I Rugarli et al.   EMBO JOURNAL

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 Fission, Fusion, and Stress

(2012) R. J. Youle et al.   SCIENCE

Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64

(2011) Jing Cheng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mitochondrial serine protease HtrA2/Omi: an overview

(2008) L Vande Walle et al.   CELL DEATH AND DIFFERENTIATION

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

(2008) J. Simon-Sanchez et al.   HUMAN MOLECULAR GENETICS