The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis
Authors
Keywords
-
Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 23, Issue 10, Pages 5694
Publisher
MDPI AG
Online
2022-05-20
DOI
10.3390/ijms23105694
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization
- (2021) Eric J. Schmidt et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Detergent‐insoluble inclusion constitutes the first pathology in PFN1 transgenic rats
- (2020) Guixiu Yuan et al. JOURNAL OF NEUROCHEMISTRY
- Familial flail leg ALS caused by PFN1 mutation
- (2019) Zhang-Yu Zou et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Developmental Expression of Mutant PFN1 in Motor Neurons Impacts Neuronal Growth and Motor Performance of Young and Adult Mice
- (2019) Merryn Brettle et al. Frontiers in Molecular Neuroscience
- Involvement of Actin in Autophagy and Autophagy-Dependent Multidrug Resistance in Cancer
- (2019) Magdalena Izdebska et al. Cancers
- Mitoautophagy: A Unique Self-Destructive Path Mitochondria of Upper Motor Neurons With TDP-43 Pathology Take, Very Early in ALS
- (2019) Mukesh Gautam et al. Frontiers in Cellular Neuroscience
- Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis
- (2019) Anthony Giampetruzzi et al. Nature Communications
- A Familial Phenotypic and Genetic Study of Mutations in PFN1 Associated with Amyotrophic Lateral Sclerosis
- (2019) Jieshan Chi et al. Neuroscience Bulletin
- Autophagy and mitophagy in ALS
- (2018) Chantell S. Evans et al. NEUROBIOLOGY OF DISEASE
- Changes in biophysical characteristics of PFN1 due to mutation causing amyotrophic lateral sclerosis
- (2018) Mina Nekouei et al. METABOLIC BRAIN DISEASE
- A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants
- (2017) Chi-Hong Wu et al. HUMAN MOLECULAR GENETICS
- Monitoring and Measuring Autophagy
- (2017) Saori R. Yoshii et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Profilin-PTEN interaction suppresses NF- B activation via inhibition of IKK phosphorylation
- (2016) A. H. Zaidi et al. BIOCHEMICAL JOURNAL
- Biophysical analysis of three novel profilin-1 variants associated with amyotrophic lateral sclerosis indicates a correlation between their aggregation propensity and the structural features of their globular state
- (2016) Edoardo Del Poggetto et al. BIOLOGICAL CHEMISTRY
- Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease
- (2016) Daniel Fil et al. HUMAN MOLECULAR GENETICS
- Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation
- (2016) Yoshinori Tanaka et al. HUMAN MOLECULAR GENETICS
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
- (2016) Kevin P Kenna et al. NATURE GENETICS
- Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity
- (2016) Chunxing Yang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Common Molecular Pathways in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
- (2016) Jochen H. Weishaupt et al. TRENDS IN MOLECULAR MEDICINE
- Dynamic actin cycling through mitochondrial subpopulations locally regulates the fission–fusion balance within mitochondrial networks
- (2016) Andrew S. Moore et al. Nature Communications
- Mitophagy is primarily due to alternative autophagy and requires the MAPK1 and MAPK14 signaling pathways
- (2015) Yuko Hirota et al. Autophagy
- Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton
- (2015) Axel Freischmidt et al. BMC NEUROSCIENCE
- Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
- (2015) Bradley N. Smith et al. NEUROBIOLOGY OF AGING
- Structural basis for mutation-induced destabilization of profilin 1 in ALS
- (2015) Sivakumar Boopathy et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)
- (2015) Serena Lattante et al. TRENDS IN GENETICS
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
- (2014) Janet Cady et al. ANNALS OF NEUROLOGY
- Alternative macroautophagy and mitophagy
- (2014) Shigeomi Shimizu et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics
- (2014) M. D. Figley et al. JOURNAL OF NEUROSCIENCE
- Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients
- (2014) Stéphanie Millecamps et al. NEUROBIOLOGY OF AGING
- Rapid Analysis of Glycolytic and Oxidative Substrate Flux of Cancer Cells in a Microplate
- (2014) Lisa S. Pike Winer et al. PLoS One
- Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation
- (2014) Yvette C. Wong et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
- (2013) Elisa Teyssou et al. ACTA NEUROPATHOLOGICA
- Why should autophagic flux be assessed?
- (2013) Xiao-jie Zhang et al. ACTA PHARMACOLOGICA SINICA
- Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1
- (2013) S. Pickles et al. HUMAN MOLECULAR GENETICS
- Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
- (2013) P. Fratta et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis
- (2013) Shu Yang et al. NEUROBIOLOGY OF AGING
- PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis
- (2013) YongPing Chen et al. NEUROBIOLOGY OF AGING
- Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis
- (2013) Elisa Teyssou et al. NEUROBIOLOGY OF AGING
- ATG5 is induced by DNA-damaging agents and promotes mitotic catastrophe independent of autophagy
- (2013) Dipak Maskey et al. Nature Communications
- Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia
- (2013) Marka van Blitterswijk et al. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- The actin cytoskeleton participates in the early events of autophagosome formation upon starvation induced autophagy
- (2012) Milton Osmar Aguilera et al. Autophagy
- Evidence for an oligogenic basis of amyotrophic lateral sclerosis
- (2012) Marka van Blitterswijk et al. HUMAN MOLECULAR GENETICS
- Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes
- (2012) Stéphanie Millecamps et al. JOURNAL OF MEDICAL GENETICS
- Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
- (2012) Chi-Hong Wu et al. NATURE
- Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
- (2012) Cinzia Tiloca et al. NEUROBIOLOGY OF AGING
- A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
- (2012) Caroline Ingre et al. NEUROBIOLOGY OF AGING
- Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
- (2011) Katya Rascovsky et al. BRAIN
- Screening of OPTN in French familial amyotrophic lateral sclerosis
- (2011) Stéphanie Millecamps et al. NEUROBIOLOGY OF AGING
- The human ubiquitin C promoter drives selective expression in principal neurons in the brain of a transgenic mouse line
- (2011) Franziska Wilhelm et al. NEUROCHEMISTRY INTERNATIONAL
- Misfolded SOD1 Associated with Motor Neuron Mitochondria Alters Mitochondrial Shape and Distribution Prior to Clinical Onset
- (2011) Christine Vande Velde et al. PLoS One
- Autophagy takes an alternative pathway
- (2010) Shigeomi Shimizu et al. Autophagy
- VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD
- (2010) Emilie Tresse et al. Autophagy
- SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
- (2010) S. Millecamps et al. JOURNAL OF MEDICAL GENETICS
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
- (2010) Janel O. Johnson et al. NEURON
- Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis
- (2010) S. Millecamps et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
- (2009) Danielle Seilhean et al. ACTA NEUROPATHOLOGICA
- Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
- (2009) Jeong-Sun Ju et al. JOURNAL OF CELL BIOLOGY
- Discovery of Atg5/Atg7-independent alternative macroautophagy
- (2009) Yuya Nishida et al. NATURE
- Electrodiagnostic criteria for diagnosis of ALS
- (2008) Mamede de Carvalho et al. CLINICAL NEUROPHYSIOLOGY
- Profilin-1 overexpression upregulates PTEN and suppresses AKT activation in breast cancer cells
- (2008) Tuhin Das et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria
- (2008) C. Vande Velde et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started