Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function
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Title
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function
Authors
Keywords
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Journal
Frontiers in Neuroscience
Volume 13, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2019-11-08
DOI
10.3389/fnins.2019.01179
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Note: Only part of the references are listed.- Update on the Genetics of Spastic Paraplegias
- (2019) Maxime Boutry et al. Current Neurology and Neuroscience Reports
- Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons
- (2019) Kristina Rehbach et al. Scientific Reports
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
- (2019) V. A. Kadnikova et al. Scientific Reports
- Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
- (2018) Timothy Newton et al. BRAIN
- Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia
- (2017) Rachel Allison et al. JOURNAL OF CELL BIOLOGY
- Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin
- (2017) Joanna M. Solowska et al. MOLECULAR BIOLOGY OF THE CELL
- Katanin spiral and ring structures shed light on power stroke for microtubule severing
- (2017) Elena Zehr et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Katanin spiral and ring structures shed light on power stroke for microtubule severing
- (2017) Elena Zehr et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
- (2015) Jennifer Hirst et al. HUMAN MOLECULAR GENETICS
- Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice
- (2015) Yuxiang Xie et al. NEURON
- Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques
- (2015) Swetha Gowrishankar et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons
- (2014) S. Havlicek et al. HUMAN MOLECULAR GENETICS
- Mitophagy of damaged mitochondria occurs locally in distal neuronal axons and requires PINK1 and Parkin
- (2014) Ghazaleh Ashrafi et al. JOURNAL OF CELL BIOLOGY
- Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
- (2014) Anke Hensiek et al. JOURNAL OF NEUROLOGY
- Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
- (2014) Benoît Renvoisé et al. Annals of Clinical and Translational Neurology
- MIT domain of Vps4 is a Ca2+-dependent phosphoinositide-binding domain
- (2013) Naoko Iwaya et al. JOURNAL OF BIOCHEMISTRY
- An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome
- (2013) Rachel Allison et al. JOURNAL OF CELL BIOLOGY
- Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia
- (2013) Kyle R. Denton et al. STEM CELLS
- A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
- (2012) G. Abrahamsen et al. Disease Models & Mechanisms
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
- (2012) Gladys Montenegro et al. JOURNAL OF CLINICAL INVESTIGATION
- Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia
- (2010) J. M. Solowska et al. HUMAN MOLECULAR GENETICS
- The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics
- (2010) M. E. Harbour et al. JOURNAL OF CELL SCIENCE
- Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
- (2010) Seong H. Park et al. JOURNAL OF CLINICAL INVESTIGATION
- SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis
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- Hereditary spastic paraplegias: membrane traffic and the motor pathway
- (2010) Craig Blackstone et al. NATURE REVIEWS NEUROSCIENCE
- The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
- (2009) Hilda T.H. Tsang et al. HUMAN MOLECULAR GENETICS
- Biochemical Analyses of Human IST1 and Its Function in Cytokinesis
- (2009) Monika Bajorek et al. MOLECULAR BIOLOGY OF THE CELL
- Essential Role of hIST1 in Cytokinesis
- (2009) Monica Agromayor et al. MOLECULAR BIOLOGY OF THE CELL
- Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin
- (2008) Antonina Roll-Mecak et al. NATURE
- Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B
- (2008) Dong Yang et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion
- (2008) James W. Connell et al. TRAFFIC
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