The chaperone DNAJB6 surveils FG-nucleoporins and is required for interphase nuclear pore complex biogenesis

…, P Gallardo, T Bergsma, M Mari, M Kolbe Musskopf… - Nature Cell …, 2022 - nature.com
Biogenesis of nuclear pore complexes (NPCs) includes the formation of the permeability
barrier composed of phenylalanine-glycine-rich nucleoporins (FG-Nups) that regulate the …

Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis

EP de Mattos, MK Musskopf, VB Leotti… - Journal of Neurology …, 2019 - jnnp.bmj.com
Objectives To perform a systematic review and meta-analysis of genetic risk factors for age
at onset (AO) in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). …

In vivo suppression of polyglutamine aggregation via co-condensation of the molecular chaperone DNAJB6

EP de Mattos, MK Musskopf, S Bergink, HH Kampinga - BioRxiv, 2022 - biorxiv.org
Amyloidogenic protein aggregation is a hallmark of several human neurodegenerative
conditions, including Alzheimer’s, Parkinson’s, and Huntington’s disease (HD). Mutations and/or …

The molecular chaperone DNAJB6 provides surveillance of FG-Nups and is required for interphase nuclear pore complex biogenesis

…, P Gallardo, T Bergsma, M Mari, MK Musskopf… - bioRxiv, 2021 - biorxiv.org
Biogenesis of nuclear pore complexes (NPCs) includes the formation of the permeability
barrier composed of phenylalanine-glycine-rich nucleoporins (FG-Nups) that regulate the …

[PDF][PDF] Association of a variant in the promoter region of DNAJB6 gene with onset of Machado-Joseph Disease in patients from south Brazil

LDF Soares, MK Musskopf, EP Mattos… - … research. Porto Alegre, 2019 - lume.ufrgs.br
INTRODUÇÃO: Embora o Zika Vírus (ZIKV) pareça ser proeminentemente neurotrópico,
existem alguns relatos do envolvimento de outros órgãos, particularmente o coração. Diante …

[PDF][PDF] Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis

M Luiza saraiva-pereira, LB Jardim - core.ac.uk
… type 3 de Mattos, Eduardo Preusser; Musskopf, Maiara Kolbe; Leotti, Vanessa Bielefeldt;
Saraiva… eduardo preusser de Mattos,1,2,3 Maiara Kolbe Musskopf,2 Vanessa Leotti Torman,4,5 …

[CITATION][C] HSP40/DNAJ Chaperones

S Bergink, HH Kampinga, MK Musskopf, EP Mattos - eLS, 2018 - research.rug.nl
… Steven Bergink, HH Kampinga, Maiara Kolbe Musskopf, Eduardo Preusser Mattos …

Long unfolded linkers facilitate membrane protein import through the nuclear pore complex

AC Meinema, JK Laba, RA Hapsari, R Otten… - Science, 2011 - science.org
Active nuclear import of soluble cargo involves transport factors that shuttle cargo through
the nuclear pore complex (NPC) by binding to phenylalanine-glycine (FG) domains. How …

[PDF][PDF] DNA Damage Response, oxidative stress and GAA-repeat instability in Friedreich's Ataxia cells: what regulates what?

E Palumbo, MV Miglietta, A Russo - bura.brunel.ac.uk
To address the mechanisms involved in GAA-trinucleotide expansion in Friedreich’s Ataxia (FRDA)
families, we are deepening two strictly related issues: 1) whether the GAA-expansion …

Specificity and mechanism of 1, 6 hexanediol-induced disruption of nuclear transport

ECR Barrientos, TA Otto, SN Mouton, A Steen… - bioRxiv, 2023 - biorxiv.org
Selective transport through the nuclear pore complex (NPC) depends on the dynamic binding
of the intrinsically disordered components of the NPC, the FG-nups, with each other and …