Lista de obras - Dieter Edbauer - Dominio Público Uruguay

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

artículo científico publicado en 2018

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

artículo científico publicado en 2010

Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model

artículo científico publicado en 2019

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

artículo científico publicado en 2016

Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins

artículo científico publicado en 2017

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.

artículo científico publicado en 2018

Author Correction: Gel-like inclusions of C-terminal fragments of TDP-43 sequester stalled proteasomes in neurons

artículo científico publicado en 2024

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

artículo científico publicado en 2013

Brain banks still yield high interest rates

artículo científico publicado en 2015

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

artículo científico publicado en 2016

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

artículo científico publicado en 2014

Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD

scientific article published on 16 March 2020

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

artículo científico publicado en 2015

Chronic T cell proliferation in brains after stroke could interfere with the efficacy of immunotherapies

artículo científico publicado en 2021

Co-expression of nicastrin and presenilin rescues a loss of function mutant of APH-1.

artículo científico publicado en 2004

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS

scientific article published on 19 June 2020

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.

artículo científico publicado en 2016

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

artículo científico publicado en 2013

Distinct roles of NR2A and NR2B cytoplasmic tails in long-term potentiation

scientific journal article

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

artículo científico publicado en 2015

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

artículo científico publicado en 2014

Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

artículo científico publicado en 2015

FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD.

artículo científico

Gamma-secretase activity is associated with a conformational change of nicastrin

artículo científico publicado en 2003

Gel-like inclusions of C-terminal fragments of TDP-43 sequester and inhibit proteasomes in neurons

artículo científico publicado en 2021

Gel‐like inclusions of C‐terminal fragments of TDP‐43 sequester stalled proteasomes in neurons

artículo científico publicado en 2022

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

artículo científico publicado en 2017

Good guy or bad guy: the opposing roles of microRNA 125b in cancer

artículo científico publicado en 2014

Identification and characterization of neuronal mitogen-activated protein kinase substrates using a specific phosphomotif antibody

artículo científico publicado en 2008

Identification of distinct gamma-secretase complexes with different APH-1 variants

artículo científico publicado en 2004

Immature nicastrin stabilizes APH-1 independent of PEN-2 and presenilin: identification of nicastrin mutants that selectively interact with APH-1.

artículo científico publicado en 2004

Insulin-degrading enzyme rapidly removes the beta-amyloid precursor protein intracellular domain (AICD)

scientific journal article

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

artículo científico publicado en 2013

Loss of TMEM106B potentiates lysosomal and FTLD-like pathology in progranulin-deficient mice

scientific article published on 14 September 2020

Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE

scientific article published on 07 January 2019

Loss of fused in sarcoma (FUS) promotes pathological Tau splicing

artículo científico publicado en 2012

Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration

artículo científico publicado en 2012

MicroRNA-125b induces tau hyperphosphorylation and cognitive deficits in Alzheimer's disease

artículo científico publicado en 2014

MicroRNA-132 dysregulation in schizophrenia has implications for both neurodevelopment and adult brain function

artículo científico publicado en 2012

Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS.

artículo científico publicado en 2016

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

artículo científico publicado en 2015

Nicastrin interacts with gamma-secretase complex components via the N-terminal part of its transmembrane domain

artículo científico publicado en 2003

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

artículo científico publicado en 2015

PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin

artículo científico publicado en 2002

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

artículo científico publicado en 2017

Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation

artículo científico publicado en 2002

Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane

artículo científico publicado en 2002

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

artículo científico publicado en 2002

Presenilin-dependent intramembrane proteolysis of CD44 leads to the liberation of its intracellular domain and the secretion of an Abeta-like peptide

artículo científico publicado en 2002

Promoter DNA methylation regulates progranulin expression and is altered in FTLD.

artículo científico publicado en 2013

Proteolytic Processing of Neuregulin 1 Type III by Three Intramembrane-cleaving Proteases

artículo científico publicado en 2015

Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity

scientific article published on 16 May 2018

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

artículo científico publicado en 2015

RNA versus protein toxicity in C9orf72 ALS/FTLD.

artículo científico publicado en 2018

Reconstitution of gamma-secretase activity

artículo científico publicado en 2003

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition

artículo científico publicado en 2016

Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132

scientific journal article

Requirement of PEN-2 for stabilization of the presenilin N-/C-terminal fragment heterodimer within the gamma-secretase complex

artículo científico publicado en 2004

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

artículo científico publicado en 2016

Role of Septin cytoskeleton in spine morphogenesis and dendrite development in neurons

artículo científico publicado en 2007

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

artículo científico publicado en 2014

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

artículo científico publicado en 2017

Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment

artículo científico publicado en 2020

TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons

artículo científico publicado en 2016

Targeting RNA G-quadruplexes as new treatment strategy for C9orf72 ALS/FTD.

artículo científico publicado en 2017

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

artículo científico publicado en 2013

The ER under rapid fire

artículo científico publicado en 2014

The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes

artículo científico publicado en 2014

The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity

artículo científico publicado en 2004

Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.

artículo científico publicado en 2015

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

artículo científico publicado en 2013

miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity

artículo científico publicado en 2011

microRNA-34c is a novel target to treat dementias

artículo científico publicado en 2011

Lista de obras de Dieter Edbauer

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.

Author Correction: Gel-like inclusions of C-terminal fragments of TDP-43 sequester stalled proteasomes in neurons

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

Brain banks still yield high interest rates

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Chronic T cell proliferation in brains after stroke could interfere with the efficacy of immunotherapies

Co-expression of nicastrin and presenilin rescues a loss of function mutant of APH-1.

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

Distinct roles of NR2A and NR2B cytoplasmic tails in long-term potentiation

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

FUS-mediated alternative splicing in the nervous system: consequences for ALS and FTLD.

Gamma-secretase activity is associated with a conformational change of nicastrin

Gel-like inclusions of C-terminal fragments of TDP-43 sequester and inhibit proteasomes in neurons

Gel‐like inclusions of C‐terminal fragments of TDP‐43 sequester stalled proteasomes in neurons

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

Good guy or bad guy: the opposing roles of microRNA 125b in cancer

Identification and characterization of neuronal mitogen-activated protein kinase substrates using a specific phosphomotif antibody

Identification of distinct gamma-secretase complexes with different APH-1 variants

Immature nicastrin stabilizes APH-1 independent of PEN-2 and presenilin: identification of nicastrin mutants that selectively interact with APH-1.

Insulin-degrading enzyme rapidly removes the beta-amyloid precursor protein intracellular domain (AICD)

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Loss of TMEM106B potentiates lysosomal and FTLD-like pathology in progranulin-deficient mice

Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE

Loss of fused in sarcoma (FUS) promotes pathological Tau splicing

Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration

MicroRNA-125b induces tau hyperphosphorylation and cognitive deficits in Alzheimer's disease

MicroRNA-132 dysregulation in schizophrenia has implications for both neurodevelopment and adult brain function

Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS.

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

Nicastrin interacts with gamma-secretase complex components via the N-terminal part of its transmembrane domain

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation

Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

Presenilin-dependent intramembrane proteolysis of CD44 leads to the liberation of its intracellular domain and the secretion of an Abeta-like peptide

Promoter DNA methylation regulates progranulin expression and is altered in FTLD.

Proteolytic Processing of Neuregulin 1 Type III by Three Intramembrane-cleaving Proteases

Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

RNA versus protein toxicity in C9orf72 ALS/FTLD.

Reconstitution of gamma-secretase activity

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition

Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132

Requirement of PEN-2 for stabilization of the presenilin N-/C-terminal fragment heterodimer within the gamma-secretase complex

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Role of Septin cytoskeleton in spine morphogenesis and dendrite development in neurons

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment

TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons

Targeting RNA G-quadruplexes as new treatment strategy for C9orf72 ALS/FTD.

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

The ER under rapid fire

The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes

The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity

Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity

microRNA-34c is a novel target to treat dementias