Toward the use of novel alternative methods in epilepsy modeling and drug discovery
C Miguel Sanz, M Martinez Navarro… - Frontiers in …, 2023 - frontiersin.org
Epilepsy is a chronic brain disease and, considering the amount of people affected of all
ages worldwide, one of the most common neurological disorders. Over 20 novel antiseizure …
ages worldwide, one of the most common neurological disorders. Over 20 novel antiseizure …
Integration of sugar metabolism and proteoglycan synthesis by UDP-glucose dehydrogenase
BM Zimmer, JJ Barycki… - Journal of Histochemistry …, 2021 - journals.sagepub.com
Regulation of proteoglycan and glycosaminoglycan synthesis is critical throughout
development, and to maintain normal adult functions in wound healing and the immune …
development, and to maintain normal adult functions in wound healing and the immune …
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
T Brunet, R Jech, M Brugger, R Kovacs… - Clinical …, 2021 - Wiley Online Library
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
AM Bertoli-Avella, C Beetz, N Ameziane… - European Journal of …, 2021 - nature.com
Despite clear technical superiority of genome sequencing (GS) over other diagnostic
methods such as exome sequencing (ES), few studies are available regarding the …
methods such as exome sequencing (ES), few studies are available regarding the …
[HTML][HTML] A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism
The domestic cat (Felis catus) numbers over 94 million in the USA alone, occupies
households as a companion animal, and, like humans, suffers from cancer and common and …
households as a companion animal, and, like humans, suffers from cancer and common and …
UDP-glucuronate metabolism controls RIPK1-driven liver damage in nonalcoholic steatohepatitis
T Zhang, N Zhang, J Xing, S Zhang, Y Chen… - Nature …, 2023 - nature.com
Hepatocyte apoptosis plays an essential role in the progression of nonalcoholic
steatohepatitis (NASH). However, the molecular mechanisms underlying hepatocyte …
steatohepatitis (NASH). However, the molecular mechanisms underlying hepatocyte …
Congenital disorders of deficiency in glycosaminoglycan biosynthesis
S Mizumoto, S Yamada - Frontiers in genetics, 2021 - frontiersin.org
Glycosaminoglycans (GAGs) including chondroitin sulfate, dermatan sulfate, and heparan
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …
sulfate are covalently attached to specific core proteins to form proteoglycans, which are …
Human brain organoid models of developmental epilepsies
V Nieto-Estévez, J Hsieh - Epilepsy Currents, 2020 - journals.sagepub.com
Epilepsy is a common neurological disorder characterized by recurrent and unprovoked
seizures due to neuronal hyperactivity. A large proportion of epilepsy cases begin during …
seizures due to neuronal hyperactivity. A large proportion of epilepsy cases begin during …
Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation
Q Bu, Y Dai, H Zhang, M Li, H Liu, Y Huang, A Zeng… - Science …, 2023 - science.org
Biallelic genetic variants in N-acetylneuraminic acid synthase (NANS), a critical enzyme in
endogenous sialic acid biosynthesis, are clinically associated with neurodevelopmental …
endogenous sialic acid biosynthesis, are clinically associated with neurodevelopmental …
Chemically-induced epileptic seizures in zebrafish: A systematic review
R Chitolina, M Gallas-Lopes, CG Reis, R Benvenutti… - Epilepsy Research, 2023 - Elsevier
The use of zebrafish as a model organism is gaining evidence in the field of epilepsy as it
may help to understand the mechanisms underlying epileptic seizures. As zebrafish assays …
may help to understand the mechanisms underlying epileptic seizures. As zebrafish assays …