Lista de obras -

A basolateral sorting signal directs ADAM10 to adherens junctions and is required for its function in cell migration

artículo científico publicado en 2006

A non-amyloidogenic function of BACE-2 in the secretory pathway

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Apical Sorting of β-Secretase Limits Amyloid β-Peptide Production ⬇️

artículo científico publicado el 6 de diciembre de 2001

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

artículo científico publicado en 2004

CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline

scholarly article by Marc Suárez-Calvet et al published December 2018 in EMBO Molecular Medicine

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

artículo científico publicado en 2012

Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

artículo científico publicado en 2019

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

scholarly article by Julia K Götzl published in September 2018

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

artículo científico publicado en 2003

Gamma-secretase complex assembly within the early secretory pathway

artículo científico publicado en 2005

Impaired protein degradation in FTLD and related disorders

artículo científico publicado en 2016

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

scientific article published on 14 September 2020

Masking of transmembrane-based retention signals controls ER export of gamma-secretase

artículo científico publicado en 2009

Mechanisms of granulin deficiency: lessons from cellular and animal models

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion

artículo científico publicado en 2007

Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain

artículo científico publicado en 1998

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

artículo científico publicado en 2003

Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.

artículo científico publicado en 2019

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

Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression

artículo científico publicado en 2014

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin

artículo científico publicado en 2009

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

artículo científico publicado en 2015

Retromer regulates postendocytic sorting of β-secretase in polarized Madin-Darby canine kidney cells

artículo científico publicado en 2012

Substitution of phenylalanine by proline at position 19 of amyloid β peptide results in an increased production of amyloid β peptides with alternative N-termini after protein kinase C stimulation

article

TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury.

artículo científico publicado en 2017

TREM2 deficiency reduces the efficacy of immunotherapeutic amyloid clearance

artículo científico publicado en 2016

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

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

artículo científico publicado en 2017

Lista de obras de

A basolateral sorting signal directs ADAM10 to adherens junctions and is required for its function in cell migration

A non-amyloidogenic function of BACE-2 in the secretory pathway

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

Apical Sorting of β-Secretase Limits Amyloid β-Peptide Production ⬇️

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk

CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

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

Gamma-secretase complex assembly within the early secretory pathway

Impaired protein degradation in FTLD and related disorders

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

Masking of transmembrane-based retention signals controls ER export of gamma-secretase

Mechanisms of granulin deficiency: lessons from cellular and animal models

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

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion

Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain

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

Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.

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

Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

Retromer regulates postendocytic sorting of β-secretase in polarized Madin-Darby canine kidney cells

Substitution of phenylalanine by proline at position 19 of amyloid β peptide results in an increased production of amyloid β peptides with alternative N-termini after protein kinase C stimulation

TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury.

TREM2 deficiency reduces the efficacy of immunotherapeutic amyloid clearance

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

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects