Lista de obras -

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands

artículo científico publicado en 2016

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017

scientific article published on 25 September 2018

A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.

artículo científico publicado en 2011

A metastable subproteome underlies inclusion formation in muscle proteinopathies

scientific article published on 03 December 2019

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

scientific journal article

Acute and bilateral blindness due to optic neuropathy associated with copper deficiency

artículo científico publicado en 2009

Altered cofactor regulation with disease-associated p97/VCP mutations

artículo científico publicado en 2015

An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors

artículo científico publicado en 2011

Author Correction: High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

scientific article published on 09 September 2020

Autophagic vacuolar pathology in desminopathies

artículo científico publicado en 2014

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA)

artículo científico publicado en 2018

Comparisons of ELISA and Western blot assays for detection of autophagy flux

artículo científico publicado en 2017

Cystinosis distal myopathy, novel clinical, pathological and genetic features

scientific article published on 15 May 2017

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers

scientific article published on 01 August 2019

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

artículo científico publicado en 2011

Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy ⬇️

artículo científico publicado el 14 de febrero de 2012

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis.

artículo científico publicado en 2017

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

artículo científico publicado en 2020

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

artículo científico publicado en 2018

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease

artículo científico publicado en 2008

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

artículo científico publicado en 2010

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

artículo científico publicado en 2006

Increased autophagy accelerates colchicine-induced muscle toxicity

artículo científico publicado en 2013

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

artículo científico publicado en 2020

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

artículo científico publicado en 2010

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

artículo científico publicado en 2017

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

artículo científico publicado en 2017

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

artículo científico publicado en 2019

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

artículo científico publicado en 2018

Motor neuron involvement in multisystem proteinopathy: implications for ALS

artículo científico publicado en 2013

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

artículo científico publicado en 2013

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

artículo científico publicado en 2019

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

artículo científico publicado en 2015

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

artículo científico publicado en 2018

Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.

artículo científico publicado en 2014

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

artículo científico publicado en 2010

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

artículo científico publicado en 2021

Novel GNE mutations in two phenotypically distinct HIBM2 patients ⬇️

artículo científico publicado el 4 de diciembre de 2010

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.

artículo científico publicado en 2019

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

artículo científico publicado en 2013

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

artículo científico publicado en 2016

Quantification of autophagy flux using LC3 ELISA.

artículo científico publicado en 2017

Quantitation of "autophagic flux" in mature skeletal muscle

artículo científico publicado en 2010

Quantitation of selective autophagic protein aggregate degradation in vitro and in vivo using luciferase reporters.

artículo científico publicado en 2009

Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function

artículo científico publicado en 2014

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy ⬇️

artículo científico publicado el 25 de febrero de 2013

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

scientific journal article

Regulation of SQSTM1/p62 via UBA domain ubiquitination and its role in disease

artículo científico publicado en 2017

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

artículo científico publicado en 2015

Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains

artículo científico publicado en 2014

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers ⬇️

artículo científico publicado el 1 de octubre de 2010

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

artículo científico publicado en 2008

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

artículo científico publicado en 2018

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

artículo científico publicado en 2015

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.

artículo científico publicado en 2014

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

artículo científico publicado en 2007

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

artículo científico publicado en 2019

VCP suppresses proteopathic seeding in neurons

artículo científico publicado en 2022

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

artículo científico publicado en 2016

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

artículo científico publicado en 2009

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

scientific article published on 19 April 2009

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

scientific article published on 14 June 2006

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

artículo científico publicado en 2012

p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract.

artículo científico publicado en 2013

p97/VCP at the intersection of the autophagy and the ubiquitin proteasome system

artículo científico publicado en 2010

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

artículo científico publicado en 2016

Guía para el uso y la interpretación de ensayos para el seguimiento de la autofagia (4ª edición)

artículo científico

Lista de obras de

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017

A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.

A metastable subproteome underlies inclusion formation in muscle proteinopathies

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

Acute and bilateral blindness due to optic neuropathy associated with copper deficiency

Altered cofactor regulation with disease-associated p97/VCP mutations

An aggregation sensing reporter identifies leflunomide and teriflunomide as polyglutamine aggregate inhibitors

Author Correction: High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

Autophagic vacuolar pathology in desminopathies

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA)

Comparisons of ELISA and Western blot assays for detection of autophagy flux

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy ⬇️

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis.

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Guidelines for the use and interpretation of assays for monitoring autophagy

High-protein diets increase cardiovascular risk by activating macrophage mTOR to suppress mitophagy

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

Increased autophagy accelerates colchicine-induced muscle toxicity

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

Motor neuron involvement in multisystem proteinopathy: implications for ALS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

Novel GNE mutations in two phenotypically distinct HIBM2 patients ⬇️

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Quantification of autophagy flux using LC3 ELISA.

Quantitation of "autophagic flux" in mature skeletal muscle

Quantitation of selective autophagic protein aggregate degradation in vitro and in vivo using luciferase reporters.

Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy ⬇️

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Regulation of SQSTM1/p62 via UBA domain ubiquitination and its role in disease

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers ⬇️

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.

Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

VCP suppresses proteopathic seeding in neurons

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract.

p97/VCP at the intersection of the autophagy and the ubiquitin proteasome system

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Guía para el uso y la interpretación de ensayos para el seguimiento de la autofagia (4ª edición)