标题
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs
作者
关键词
-
出版物
PLoS One
Volume 10, Issue 11, Pages e0141824
出版商
Public Library of Science (PLoS)
发表日期
2015-11-11
DOI
10.1371/journal.pone.0141824
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease
- (2015) Kaisa Kyöstilä et al. PLoS Genetics
- ZFYVE26/SPASTIZIN
- (2014) Chiara Vantaggiato et al. Autophagy
- Oxidative stress and autophagy: the clash between damage and metabolic needs
- (2014) G Filomeni et al. CELL DEATH AND DIFFERENTIATION
- Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation
- (2014) Jaerak Chang et al. JOURNAL OF CLINICAL INVESTIGATION
- Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron
- (2014) Cristina Colombelli et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Age-related axonal swellings precede other neuropathological hallmarks in a knock-in mouse model of Huntington's disease
- (2014) Martina Marangoni et al. NEUROBIOLOGY OF AGING
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- Lysosome: regulator of lipid degradation pathways
- (2014) Carmine Settembre et al. TRENDS IN CELL BIOLOGY
- Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
- (2014) Sonia Levi et al. Frontiers in Pharmacology
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
- (2013) John K. Fink ACTA NEUROPATHOLOGICA
- Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
- (2013) Susan J. Hayflick et al. BRAIN
- De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
- (2013) Hirotomo Saitsu et al. NATURE GENETICS
- The role of autophagy in neurodegenerative disease
- (2013) Ralph A Nixon NATURE MEDICINE
- A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
- (2013) Mukhran Khundadze et al. PLoS Genetics
- Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
- (2012) Danit Oz-Levi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
- (2012) Tobias B. Haack et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Guidelines for the use and interpretation of assays for monitoring autophagy
- (2012) Daniel J. Klionsky et al. Autophagy
- Endocytosis and autophagy: Shared machinery for degradation
- (2012) Christopher A. Lamb et al. BIOESSAYS
- Stress-induced self-cannibalism: on the regulation of autophagy by endoplasmic reticulum stress
- (2012) Shane Deegan et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- A Mammalian Autophagosome Maturation Mechanism Mediated by TECPR1 and the Atg12-Atg5 Conjugate
- (2012) Dandan Chen et al. MOLECULAR CELL
- Neuropathology underlying clinical variability in patients with synucleinopathies
- (2011) Glenda M. Halliday et al. ACTA NEUROPATHOLOGICA
- Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
- (2011) Monika B. Hartig et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality
- (2011) Yves Dehouck et al. BMC BIOINFORMATICS
- Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy
- (2011) S. Lee et al. JOURNAL OF NEUROSCIENCE
- A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
- (2011) John C. Fyfe et al. NEUROGENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Network organization of the human autophagy system
- (2010) Christian Behrends et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- NetTurnP – Neural Network Prediction of Beta-turns by Use of Evolutionary Information and Predicted Protein Sequence Features
- (2010) Bent Petersen et al. PLoS One
- Establishment of an Improved Mouse Model for Infantile Neuroaxonal Dystrophy That Shows Early Disease Onset and Bears a Point Mutation in Pla2g6
- (2009) Haruka Wada et al. AMERICAN JOURNAL OF PATHOLOGY
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Axonal Pathology and Loss Precede Demyelination and Accompany Chronic Lesions in a Spontaneously Occurring Animal Model of Multiple Sclerosis
- (2009) Frauke Seehusen et al. BRAIN PATHOLOGY
- Protein structure prediction on the Web: a case study using the Phyre server
- (2009) Lawrence A Kelley et al. Nature Protocols
- A generic method for assignment of reliability scores applied to solvent accessibility predictions
- (2009) Bent Petersen et al. BMC STRUCTURAL BIOLOGY
- Neuroaxonal Dystrophy Caused by Group VIA Phospholipase A2 Deficiency in Mice: A Model of Human Neurodegenerative Disease
- (2008) K. Shinzawa et al. JOURNAL OF NEUROSCIENCE
- Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
- (2008) M. A. Kurian et al. NEUROLOGY
- Limited remyelination in Theiler's murine encephalomyelitis due to insufficient oligodendroglial differentiation of nerve/glial antigen 2 (NG2)-positive putative oligodendroglial progenitor cells
- (2008) R. Ulrich et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
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