Lista de obras - William T Dauer - Dominio Público Uruguay

A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

artículo científico publicado en 2018

A critical evaluation of the Braak staging scheme for Parkinson's disease.

artículo científico publicado en 2008

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

scientific journal article

A motif within the armadillo repeat of Parkinson's-linked LRRK2 interacts with FADD to hijack the extrinsic death pathway.

artículo científico publicado en 2018

A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation

artículo científico publicado en 2015

A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import

artículo científico publicado en 2015

Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum

artículo científico publicado en 2015

Alpha-synuclein involvement in hippocampal synaptic plasticity: role of NO, cGMP, cGK and CaMKII

scientific journal article

Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.

artículo científico publicado en 2011

Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

artículo científico publicado en 2015

Contextual automated 3D analysis of subcellular organelles adapted to high-content screening

artículo científico publicado en 2010

Cortical 5-HT2A receptor signaling modulates anxiety-like behaviors in mice.

artículo científico publicado en 2006

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia

artículo científico publicado en 2017

Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia ⬇️

artículo científico publicado el 1 de abril de 1998

Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice

artículo científico publicado en 2014

Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy

artículo científico publicado en 2008

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.

artículo científico publicado en 2017

Emerging common molecular pathways for primary dystonia.

artículo científico

Endolysosomal dysfunction in Parkinson's disease: Recent developments and future challenges.

artículo científico publicado en 2016

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

artículo científico publicado en 2015

Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia.

artículo científico publicado en 2017

Genetic background modulates the phenotype of a mouse model of DYT1 dystonia

artículo científico publicado en 2012

Inherited dystonias: clinical features and molecular pathways

artículo científico publicado en 2018

Inherited isolated dystonia: clinical genetics and gene function.

artículo científico publicado en 2014

Interplay of LRRK2 with chaperone-mediated autophagy

artículo científico publicado en 2013

LRRK2 Parkinson disease mutations enhance its microtubule association.

artículo científico publicado en 2011

Lack of alpha-synuclein does not alter apoptosis of neonatal catecholaminergic neurons.

artículo científico publicado en 2004

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.

artículo científico publicado en 2016

Lamina-associated polypeptide 1: protein interactions and tissue-selective functions

artículo científico publicado en 2014

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance

artículo científico publicado en 2013

Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design.

artículo científico publicado en 2011

Leucine-rich repeat kinase 2 for beginners: six key questions.

artículo científico publicado en 2012

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

scientific journal article

Magic shotgun for Parkinson's disease?

artículo científico publicado en 2014

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

artículo científico publicado en 2004

Model-based and Model-free Machine Learning Techniques for Diagnostic Prediction and Classification of Clinical Outcomes in Parkinson's Disease

artículo científico publicado en 2018

Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

artículo científico publicado en 2014

Multiplying messages LRRK beneath Parkinson disease

artículo científico publicado en 2014

Neurogenetic disease: genes, mechanisms, and future promise.

artículo científico publicado en 2014

Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs.

artículo científico publicado en 2016

Nuclear envelope breakdown induced by herpes simplex virus type 1 involves the activity of viral fusion proteins.

artículo científico publicado en 2014

Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis

scientific article published on 13 August 2019

Parkinson syndrome: Heterogeneity of etiology; heterogeneity of pathogenesis?

artículo científico publicado en 2012

Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations

artículo científico publicado en 2016

Primary dystonia: molecules and mechanisms.

artículo científico publicado en 2009

Regulation of alpha-synuclein by bFGF in cultured ventral midbrain dopaminergic neurons

scientific journal article

Regulation of the development of mesencephalic dopaminergic systems by the selective expression of glial cell line-derived neurotrophic factor in their targets.

artículo científico publicado en 2004

Stiff child syndrome with mutation of DYT1 gene

article

Targeted disruption of neuronal 19S proteasome subunits induces the formation of ubiquitinated inclusions in the absence of cell death ⬇️

artículo científico publicado el 28 de septiembre de 2011

The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.

artículo científico publicado en 2017

The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity

artículo científico publicado en 2022

The WD40 domain is required for LRRK2 neurotoxicity

artículo científico publicado en 2009

The biology and pathology of the familial Parkinson's disease protein LRRK2.

scientific article published on January 2010

The nuclear envelope as a signaling node in development and disease.

artículo científico publicado en 2009

The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.

artículo científico publicado en 2013

The nuclear envelope: an intriguing focal point for neurogenetic disease

artículo científico publicado en 2014

The ons and offs of inducible transgenic technology: a review.

artículo científico publicado en 2001

The roles of kinases in familial Parkinson's disease.

artículo científico publicado en 2007

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

artículo científico publicado en 2008

TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement.

artículo científico publicado en 2017

TorsinA dysfunction causes persistent neuronal nuclear pore defects.

artículo científico publicado en 2017

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

artículo científico publicado en 2014

TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia

artículo científico publicado en 2021

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

artículo científico publicado en 2020

alpha-Synuclein produces a long-lasting increase in neurotransmitter release

scientific journal article

alpha-synuclein is required for the fibrillar nature of ubiquitinated inclusions induced by proteasomal inhibition in primary neurons.

artículo científico publicado en 2004

α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.

artículo científico publicado en 2015

Lista de obras de William T Dauer

A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

A critical evaluation of the Braak staging scheme for Parkinson's disease.

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

A motif within the armadillo repeat of Parkinson's-linked LRRK2 interacts with FADD to hijack the extrinsic death pathway.

A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation

A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import

Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum

Alpha-synuclein involvement in hippocampal synaptic plasticity: role of NO, cGMP, cGK and CaMKII

Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.

Clinical and scientific perspectives on movement disorders: Stanley Fahn's contributions

Contextual automated 3D analysis of subcellular organelles adapted to high-content screening

Cortical 5-HT2A receptor signaling modulates anxiety-like behaviors in mice.

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia

Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia ⬇️

Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice

Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.

Emerging common molecular pathways for primary dystonia.

Endolysosomal dysfunction in Parkinson's disease: Recent developments and future challenges.

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia.

Genetic background modulates the phenotype of a mouse model of DYT1 dystonia

Inherited dystonias: clinical features and molecular pathways

Inherited isolated dystonia: clinical genetics and gene function.

Interplay of LRRK2 with chaperone-mediated autophagy

LRRK2 Parkinson disease mutations enhance its microtubule association.

Lack of alpha-synuclein does not alter apoptosis of neonatal catecholaminergic neurons.

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth.

Lamina-associated polypeptide 1: protein interactions and tissue-selective functions

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance

Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design.

Leucine-rich repeat kinase 2 for beginners: six key questions.

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

Magic shotgun for Parkinson's disease?

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

Model-based and Model-free Machine Learning Techniques for Diagnostic Prediction and Classification of Clinical Outcomes in Parkinson's Disease

Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

Multiplying messages LRRK beneath Parkinson disease

Neurogenetic disease: genes, mechanisms, and future promise.

Neuronal Nuclear Membrane Budding Occurs during a Developmental Window Modulated by Torsin Paralogs.

Nuclear envelope breakdown induced by herpes simplex virus type 1 involves the activity of viral fusion proteins.

Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis

Parkinson syndrome: Heterogeneity of etiology; heterogeneity of pathogenesis?

Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations

Primary dystonia: molecules and mechanisms.

Regulation of alpha-synuclein by bFGF in cultured ventral midbrain dopaminergic neurons

Regulation of the development of mesencephalic dopaminergic systems by the selective expression of glial cell line-derived neurotrophic factor in their targets.

Stiff child syndrome with mutation of DYT1 gene

Targeted disruption of neuronal 19S proteasome subunits induces the formation of ubiquitinated inclusions in the absence of cell death ⬇️

The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.

The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity

The WD40 domain is required for LRRK2 neurotoxicity

The biology and pathology of the familial Parkinson's disease protein LRRK2.

The nuclear envelope as a signaling node in development and disease.

The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.

The nuclear envelope: an intriguing focal point for neurogenetic disease

The ons and offs of inducible transgenic technology: a review.

The roles of kinases in familial Parkinson's disease.

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement.

TorsinA dysfunction causes persistent neuronal nuclear pore defects.

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

alpha-Synuclein produces a long-lasting increase in neurotransmitter release

alpha-synuclein is required for the fibrillar nature of ubiquitinated inclusions induced by proteasomal inhibition in primary neurons.

α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.