A5007701946- Genetic and Kidney Cyst Diseases
- Pancreatic function and diabetes
- Liver Disease Diagnosis and Treatment
- Pediatric Hepatobiliary Diseases and Treatments
- Mitochondrial Function and Pathology
- Renal and related cancers
- Ion channel regulation and function
- Neuropeptides and Animal Physiology
- Peptidase Inhibition and Analysis
- Genomics and Rare Diseases
- Cellular transport and secretion
- Diabetes and associated disorders
- Genetic Syndromes and Imprinting
- Genetic Neurodegenerative Diseases
- Renal Diseases and Glomerulopathies
- Protease and Inhibitor Mechanisms
- Liver physiology and pathology
- Genetics and Neurodevelopmental Disorders
Radboud University Nijmegen
2021-2024
Radboud University Medical Center
2020-2024
University Medical Center
2023-2024
Rigshospitalet
2020-2022
Copenhagen University Hospital
2021-2022
Kennedy Center
2021-2022
Radboud Institute for Molecular Life Sciences
2021
University of Copenhagen
2020
University Medical Center Groningen
2015
NAA10 is the catalytic subunit of N-terminal acetyltransferase complex, NatA, which responsible for acetylation nearly half human proteome. Since 2011, at least 21 different missense variants have been reported as pathogenic in humans. The clinical features associated with this X-linked condition vary, but commonly described include developmental delay, intellectual disability, cardiac anomalies, brain abnormalities, facial dysmorphism and/or visual impairment. Here, we present eight...
The formation of multiple cysts in the liver occurs a number isolated monogenic diseases or multisystemic syndromes, during which bile ducts develop into fluid-filled biliary cysts. For patients with polycystic disease (PCLD), nonsurgical treatments are limited, and managing life-long abdominal swelling, pain, increasing risk cyst rupture infection is common. We demonstrate here that loss primary cilium on postnatal epithelial cells (via deletion cilia gene Wdr35 ) drives ongoing...
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13 KCNC3 and to gain insights into disease prevalence Netherlands, we sequenced entire coding region 848 Dutch cerebellar patients with familial or sporadic origin. We evaluated pathogenicity identified variants co-segregation analysis silico prediction followed biochemical...
Autosomal dominant polycystic liver disease is a rare condition with female preponderance, based mainly on pathogenic variants in 2 genes, PRKCSH and SEC63. Clinically, autosomal characterized by vast heterogeneity, ranging from asymptomatic to highly symptomatic hepatomegaly. To date, little known about the prediction of progression at early stages, hindering clinical management, genetic counseling, design randomized controlled trials. improve prognostication, we built consortium European...
Protein-truncating variants in α-1,3-glucosyltransferase (ALG8) are a risk factor for mild cystic kidney disease phenotype. The association between these and liver cysts is limited. We aim to identify pathogenic ALG8 our cohort of autosomal dominant polycystic (ADPLD) individuals. In order fine-map the phenotypical spectrum variant carriers, we performed targeted screening 478 ADPLD singletons, exome sequencing 48 singletons 4 patients from two large families. Eight novel one previously...
α-1,2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess livers as a common extrarenal manifestation. We performed whole exome sequencing in female liver (ADPLD) without cysts and established the presence of heterozygous missense variant (c.677G>C p.(Gly226Ala)) ALG9. In silico pathogenicity prediction 3D protein modeling determined this pathogenic. Loss heterozygosity is regularly...