4.6 Article

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

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。
Article Biochemistry & Molecular Biology

Electron Cryomicroscopy Structure of a Membrane-anchored Mitochondrial AAA Protease

Sukyeong Lee et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Medicine, General & Internal

Motor neurone disease: a practical update on diagnosis and management

Clare Wood-Allum et al.

CLINICAL MEDICINE (2010)

Article Biochemistry & Molecular Biology

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

Ulf Edener et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Review Clinical Neurology

A neurological perspective on mitochondrial disease

Robert McFarland et al.

LANCET NEUROLOGY (2010)

Article Genetics & Heredity

Exome sequencing identifies the cause of a mendelian disorder

Sarah B. Ng et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella et al.

NATURE GENETICS (2010)

Article Biochemistry & Molecular Biology

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

Paola Martinelli et al.

HUMAN MOLECULAR GENETICS (2009)

Article Biochemistry & Molecular Biology

An Intersubunit Signaling Network Coordinates ATP Hydrolysis by m-AAA Proteases

Steffen Augustin et al.

MOLECULAR CELL (2009)

Article Multidisciplinary Sciences

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah B. Ng et al.

NATURE (2009)

Article Biotechnology & Applied Microbiology

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke et al.

NATURE BIOTECHNOLOGY (2009)

Article Biochemistry & Molecular Biology

CDD: specific functional annotation with the Conserved Domain Database

Aron Marchler-Bauer et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Multidisciplinary Sciences

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Biochemistry & Molecular Biology

Structural organization of mitochondrial ATP synthase

Ilka Wittig et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2008)

Article Biochemistry & Molecular Biology

Quality control of mitochondria: protection against neurodegeneration and ageing

Takashi Tatsuta et al.

EMBO JOURNAL (2008)

Article Neurosciences

The mitochondrial protease AFG3L2 is essential for axonal development

Francesca Maltecca et al.

JOURNAL OF NEUROSCIENCE (2008)

Article Multidisciplinary Sciences

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley et al.

NATURE (2008)

Review Biochemistry & Molecular Biology

Protein degradation within mitochondria: Versatile activities of AAA proteases and other peptidases

Mirko Koppen et al.

CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2007)

Article Biochemistry & Molecular Biology

m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria

Takashi Tatsuta et al.

EMBO JOURNAL (2007)

Article Biochemistry & Molecular Biology

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

Mirko Koppen et al.

MOLECULAR AND CELLULAR BIOLOGY (2007)

Article Clinical Neurology

Unbalanced whole arm translocation resulting in loss of 18p in dystonia

J Nasir et al.

MOVEMENT DISORDERS (2006)

Article Medicine, Research & Experimental

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

F Ferreirinha et al.

JOURNAL OF CLINICAL INVESTIGATION (2004)