Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
Congenital disorders of glycosylation: Still “hot” in 2020
N Ondruskova, A Cechova, H Hansikova… - … et Biophysica Acta (BBA …, 2021 - Elsevier
Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …
caused by defects in the genes important for the process of protein and lipid glycosylation …
[HTML][HTML] A quantitative proteome map of the human body
Determining protein levels in each tissue and how they compare with RNA levels is
important for understanding human biology and disease as well as regulatory processes …
important for understanding human biology and disease as well as regulatory processes …
[HTML][HTML] Transformative network modeling of multi-omics data reveals detailed circuits, key regulators, and potential therapeutics for Alzheimer's disease
To identify the molecular mechanisms and novel therapeutic targets of late-onset
Alzheimer's Disease (LOAD), we performed an integrative network analysis of multi-omics …
Alzheimer's Disease (LOAD), we performed an integrative network analysis of multi-omics …
Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo
Lysosomal acidification is a key feature of healthy cells. Inability to maintain lysosomal acidic
pH is associated with aging and neurodegenerative diseases. However, the mechanisms …
pH is associated with aging and neurodegenerative diseases. However, the mechanisms …
[HTML][HTML] V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities
Vacuolar-type ATPase (v-ATPase) is a multimeric protein complex that regulates H+
transport across membranes and intra-cellular organelle acidification. Catabolic processes …
transport across membranes and intra-cellular organelle acidification. Catabolic processes …
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle
K Bonnycastle, EC Davenport… - Journal of …, 2021 - Wiley Online Library
The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …
maintenance of neurotransmission. Until relatively recently it was believed that most …
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
Abstract Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to
acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V …
acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V …
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …
ATM loss disrupts the autophagy-lysosomal pathway
ABSTRACT ATM (ataxia telangiectasia mutated) protein is found associated with multiple
organelles including synaptic vesicles, endosomes and lysosomes, often in cooperation with …
organelles including synaptic vesicles, endosomes and lysosomes, often in cooperation with …