4.8 Article

PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy

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。
Review Genetics & Heredity

Human gene essentiality

Istvan Bartha et al.

NATURE REVIEWS GENETICS (2018)

Article Multidisciplinary Sciences

Assembly of the membrane domain of ATP synthase in human mitochondria

Jiuya He et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Review Biochemistry & Molecular Biology

Optic neuropathies: the tip of the neurodegeneration iceberg

Valerio Carelli et al.

HUMAN MOLECULAR GENETICS (2017)

Article Multidisciplinary Sciences

Atomic model for the dimeric FO region of mitochondrial ATP synthase

Hui Guo et al.

SCIENCE (2017)

Article Multidisciplinary Sciences

INA complex liaises the F1Fo-ATP synthase membrane motor modules

Nataliia Naumenko et al.

NATURE COMMUNICATIONS (2017)

Article Ophthalmology

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy

Yanchun Ji et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)

Review Biochemistry & Molecular Biology

ATP Synthase

Wolfgang Junge et al.

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)

Article Developmental Biology

The involvement of PCP proteins in radial cell intercalations during Xenopus embryonic development

Olga Ossipova et al.

DEVELOPMENTAL BIOLOGY (2015)

Article Biochemistry & Molecular Biology

Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse

Alfred K. Yu et al.

HUMAN MOLECULAR GENETICS (2015)

Article Ophthalmology

ISCEV Standard for full-field clinical electroretinography (2015 update)

Daphne L. McCulloch et al.

DOCUMENTA OPHTHALMOLOGICA (2015)

Article Ophthalmology

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy

Pingping Jiang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)

Article Biochemistry & Molecular Biology

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential

Shasha Gong et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Multidisciplinary Sciences

prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies

Salleh N. Ehaideb et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Review Endocrinology & Metabolism

Mitochondrial ATP synthase: architecture, function and pathology

An I. Jonckheere et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Article Multidisciplinary Sciences

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

Chun Shi Lin et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Genetics & Heredity

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Hirotaka Tao et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Review Clinical Neurology

Leber's Hereditary Optic Neuropathy

Alfredo A. Sadun et al.

CURRENT TREATMENT OPTIONS IN NEUROLOGY (2011)

Article Biochemistry & Molecular Biology

Modular assembly of yeast mitochondrial ATP synthase

Malgorzata Rak et al.

EMBO JOURNAL (2011)

Article Biochemistry & Molecular Biology

Assessing bioenergetic function in response to oxidative stress by metabolic profiling

Brian P. Dranka et al.

FREE RADICAL BIOLOGY AND MEDICINE (2011)

Article Ophthalmology

Long-Term In Vivo Imaging and Measurement of Dendritic Shrinkage of Retinal Ganglion Cells

Christopher Kai-shun Leung et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Biochemistry & Molecular Biology

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

Valerio Carelli et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2009)

Review Genetics & Heredity

Inherited mitochondrial optic neuropathies

P. Yu-Wai-Man et al.

JOURNAL OF MEDICAL GENETICS (2009)

Article Genetics & Heredity

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy

Suma P. Shankar et al.

OPHTHALMIC GENETICS (2008)

Article Biochemistry & Molecular Biology

An enhanced MITOMAP with a global mtDNA mutational phylogeny

Eduardo Ruiz-Pesini et al.

NUCLEIC ACIDS RESEARCH (2007)

Article Biochemical Research Methods

Blue native PAGE

Ilka Wittig et al.

NATURE PROTOCOLS (2006)

Article Genetics & Heredity

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

L De Meirleir et al.

JOURNAL OF MEDICAL GENETICS (2004)

Article Biochemistry & Molecular Biology

Atp11p and Atp12p are assembly factors for the F1-ATPase in human mitochondria

ZG Wang et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)