Lista de obras -

Annexin A2 recognises a specific region in the 3'-UTR of its cognate messenger RNA

artículo científico publicado en 2006

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

artículo científico publicado en 2014

Binding of ATP at the active site of human pancreatic glucokinase--nucleotide-induced conformational changes with possible implications for its kinetic cooperativity

artículo científico publicado en 2011

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

artículo científico publicado en 2018

Dominant ARL3-related retinitis pigmentosa

artículo científico publicado en 2019

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants

scientific article published on 01 April 2020

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

artículo científico publicado en 2016

Functional evaluation of sixteen SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro

scientific article published on 02 September 2020

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation

artículo científico publicado en 2013

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

artículo científico publicado en 2012

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

artículo científico publicado en 2017

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism

artículo científico publicado en 2015

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

artículo científico publicado en 2017

NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.

artículo científico publicado en 2018

Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation

artículo científico publicado en 2017

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

artículo científico publicado en 2017

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

artículo científico publicado en 2020

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

artículo científico publicado en 2014

SUMOylation of pancreatic glucokinase regulates its cellular stability and activity

artículo científico publicado en 2013

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

artículo científico publicado en 2016

The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α

artículo científico publicado en 2018

The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV

artículo científico publicado en 2007

Lista de obras de

Annexin A2 recognises a specific region in the 3'-UTR of its cognate messenger RNA

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

Binding of ATP at the active site of human pancreatic glucokinase--nucleotide-induced conformational changes with possible implications for its kinetic cooperativity

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Dominant ARL3-related retinitis pigmentosa

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Functional evaluation of sixteen SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.

Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

SUMOylation of pancreatic glucokinase regulates its cellular stability and activity

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α

The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV