Publications by authors named "Brocke Holmefjord Katja"
Article Synopsis
- Phosphoglucomutase 1 deficiency (PGM1-CDG) is a genetic disorder affecting carbohydrate metabolism, leading to varied health issues including hypoglycemia and growth delays in infants.
- Early diagnosis and treatment with D-galactose can significantly improve outcomes, but many cases go undetected due to lack of neonatal screening.
- A study analyzed eleven infants with PGM1-CDG, finding common symptoms like hypoglycemia and facial abnormalities, while also demonstrating that modified screening tests could help identify the condition at birth, underscoring the need for better awareness and screening programs.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Angel Ashikov Nurulamin Abu Bakar Xiao-Yan Wen Marco Niemeijer Glentino Rodrigues Pinto Osorio Brocke Holmefjord Katja
Hum Mol Genet
September 2018
Article Synopsis
- Genomics methods have greatly enhanced the understanding of Mendelian disorders, especially when combined with high-throughput functional-omics technologies, leading to better identification of genetic variants in families with recessive inheritance.
- In a study of 99 individuals with abnormal Golgi glycosylation, 31 cases underwent whole-exome sequencing, revealing a known defect in 15 individuals, while unique glycomics signatures helped identify four patients with shared genetic markers.
- Affected siblings had mutations in the SLC10A7 gene, leading to conditions like amelogenesis imperfecta and skeletal dysplasia, with studies in zebrafish and fibroblasts showcasing the gene's crucial role in bone mineralization and glycoprotein transport.
Article Synopsis
- - The study aimed to categorize patients with phosphoglucomutase-1 deficiency (PGM1-CDG) into phenotypic groups and identify factors predicting disease severity using the Tulane PGM1-CDG Rating Scale (TPCRS).
- - Researchers evaluated 27 patients, finding a significant difference in TPCRS scores across the phenotypic groups, but no correlation between genotype, enzyme activity, and the TPCRS score.
- - They identified five key clinical features—congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth—that can predict disease severity, with some assessable through physical examination for quicker diagnosis and treatment.
Article Synopsis
- Synaptic function is crucial for brain activities, and studying patients missing specific synaptic proteins helps deepen our understanding of this function.
- The research highlights a rare disease linked to the absence of the synaptic protein CNKSR2, affecting individuals aged 6 to 62, resulting in various neurological issues.
- Key symptoms of CNKSR2 deficiency include intellectual disability, attention difficulties, and sudden loss of language skills following early childhood epilepsy, shedding light on its role in broader neurological disorders.