Mitochondrial dynamics in health and disease
In animals, mitochondria are mainly organised into an interconnected tubular network
extending across the cell along a cytoskeletal scaffold. Mitochondrial fission and fusion, as …
extending across the cell along a cytoskeletal scaffold. Mitochondrial fission and fusion, as …
[HTML][HTML] NKCC1, an elusive molecular target in brain development: making sense of the existing data
Ionotropic GABA transmission is mediated by anion (mainly Cl−)-permeable GABAA
receptors (GABAARs). In immature neurons, GABA exerts depolarizing and sometimes …
receptors (GABAARs). In immature neurons, GABA exerts depolarizing and sometimes …
[HTML][HTML] Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum… - The American Journal of …, 2019 - cell.com
We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …
[HTML][HTML] Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT
To enhance phenotype recognition in clinical notes of genetic diseases, we developed two
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …
[HTML][HTML] Large-scale exome sequence analysis identifies sex-and age-specific determinants of obesity
Obesity contributes substantially to the global burden of disease and has a significant
heritable component. Recent large-scale exome sequencing studies identified several …
heritable component. Recent large-scale exome sequencing studies identified several …
[HTML][HTML] Autism and schizophrenia-associated CYFIP1 regulates the balance of synaptic excitation and inhibition
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and
neurodevelopmental disorders, but the underlying genetic etiology remains poorly …
neurodevelopmental disorders, but the underlying genetic etiology remains poorly …
Spectrins: molecular organizers and targets of neurological disorders
DN Lorenzo, RJ Edwards, AL Slavutsky - Nature Reviews …, 2023 - nature.com
Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian
nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of …
nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of …
[HTML][HTML] Genetic disorders of manganese metabolism
S Anagianni, K Tuschl - Current neurology and neuroscience reports, 2019 - Springer
Abstract Purpose of Review This article provides an overview of the pathogenesis, clinical
presentation and treatment of inherited manganese transporter defects. Recent Findings …
presentation and treatment of inherited manganese transporter defects. Recent Findings …
Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update
LM Lange, P Gonzalez‐Latapi… - Movement …, 2022 - Wiley Online Library
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …
Genetic Movement Disorders presented a new system for naming genetically determined …
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
The post-translational modification of proteins through the addition of UFM1, also known as
ufmylation, plays a critical developmental role as revealed by studies in animal models. The …
ufmylation, plays a critical developmental role as revealed by studies in animal models. The …