4.8 Article

NMNAT1 mutations cause Leber congenital amaurosis

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 Biochemical Research Methods

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)

Gregory R. Grant et al.

BIOINFORMATICS (2011)

Article Biochemistry & Molecular Biology

Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration

Laura Conforti et al.

FEBS JOURNAL (2011)

Article Genetics & Heredity

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis et al.

NATURE GENETICS (2011)

Article Biochemistry & Molecular Biology

SDM-a server for predicting effects of mutations on protein stability and malfunction

Catherine L. Worth et al.

NUCLEIC ACIDS RESEARCH (2011)

Review Neurosciences

Wallerian Degeneration, Wld(S), and Nmnat

Michael P. Coleman et al.

ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)

Review Medicine, Research & Experimental

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

Anneke I. den Hollander et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Review Biochemistry & Molecular Biology

The NMN/NaMN adenylyltransferase (NMNAT) protein family

Corinna Lau et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2009)

Article Biochemistry & Molecular Biology

Identification of deleterious mutations within three human genomes

Sung Chun et al.

GENOME RESEARCH (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 Medicine, General & Internal

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Albert M. Maguire et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Medicine, General & Internal

Effect of gene therapy on visual function in Leber's congenital amaurosis

James W. B. Bainbridge et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Multidisciplinary Sciences

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Artur V. Cideciyan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Review Ophthalmology

Leber congenital amaurosis: Genes, proteins and disease mechanisms

Anneke I. den Hollander et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2008)

Article Multidisciplinary Sciences

Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1

Felicitas Berger et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Ophthalmology

Perspective on genes and mutations causing retinitis pigmentosa

Stephen P. Daiger et al.

ARCHIVES OF OPHTHALMOLOGY (2007)

Review Biochemistry & Molecular Biology

NAD+ metabolism in health and disease

Peter Belenky et al.

TRENDS IN BIOCHEMICAL SCIENCES (2007)

Article Biochemistry & Molecular Biology

Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity

R. Grace Zhai et al.

PLOS BIOLOGY (2006)

Review Ophthalmology

Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis

Michel Michaelides et al.

SURVEY OF OPHTHALMOLOGY (2006)

Article Genetics & Heredity

Characterization and prediction of alternative splice sites

M Wang et al.

Article Biochemistry & Molecular Biology

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

A Siepel et al.

GENOME RESEARCH (2005)

Article Biochemistry & Molecular Biology

SIFT: predicting amino acid changes that affect protein function

PC Ng et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Biochemistry & Molecular Biology

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

TJ Keen et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Human non-synonymous SNPs: server and survey

V Ramensky et al.

NUCLEIC ACIDS RESEARCH (2002)

Review Biochemistry & Molecular Biology

Pathways to photoreceptor cell death in inherited retinal degenerations

EA Pierce

BIOESSAYS (2001)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)