Chaperoning SNARE folding and assembly
Y Zhang, FM Hughson - Annual review of biochemistry, 2021 - annualreviews.org
SNARE proteins and Sec1/Munc18 (SM) proteins constitute the core molecular engine that
drives nearly all intracellular membrane fusion and exocytosis. While SNAREs are known to …
drives nearly all intracellular membrane fusion and exocytosis. While SNAREs are known to …
STXBP1 encephalopathies: clinical spectrum, disease mechanisms, and therapeutic strategies
D Abramov, NGL Guiberson… - Journal of …, 2021 - Wiley Online Library
Abstract Mutations in Munc18‐1/STXBP1 (syntaxin‐binding protein 1) are linked to various
severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous …
severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous …
SNAREopathies: diversity in mechanisms and symptoms
M Verhage, JB Sørensen - Neuron, 2020 - cell.com
Neuronal SNAREs and their key regulators together drive synaptic vesicle exocytosis and
synaptic transmission as a single integrated membrane fusion machine. Human pathogenic …
synaptic transmission as a single integrated membrane fusion machine. Human pathogenic …
The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids
The phospholipid and free fatty acid (FFA) composition of neuronal membranes plays a
crucial role in learning and memory, but the mechanisms through which neuronal activity …
crucial role in learning and memory, but the mechanisms through which neuronal activity …
[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing
C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …
genes coding for synaptic proteins. These proteins oversee the process of …
[HTML][HTML] A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
MS Paul, SL Michener, H Pan, H Chan… - The American Journal of …, 2024 - cell.com
PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-
protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase …
protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase …
Fundamental Neurochemistry Review: GABAA receptor neurotransmission and epilepsy: Principles, disease mechanisms and pharmacotherapy
Epilepsy is a common neurological disorder associated with alterations of excitation‐
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …
Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy
Presynaptic syntaxin binding protein 1 (STXBP1) is essential for neurotransmitter release.
Heterozygous mutations in this protein cause STXBP1 encephalopathy (STXBP1-E), which …
Heterozygous mutations in this protein cause STXBP1 encephalopathy (STXBP1-E), which …
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG
SJ Houtman, HCA Lammertse, AA van Berkel… - Frontiers in …, 2021 - frontiersin.org
STXBP1 syndrome is a rare neurodevelopmental disorder caused by heterozygous variants
in the STXBP1 gene and is characterized by psychomotor delay, early-onset developmental …
in the STXBP1 gene and is characterized by psychomotor delay, early-onset developmental …
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy
TJ Turner, C Zourray, S Schorge… - Journal of …, 2021 - Wiley Online Library
Neurodevelopmental disorders can be caused by mutations in neuronal genes fundamental
to brain development. These disorders have severe symptoms ranging from intellectually …
to brain development. These disorders have severe symptoms ranging from intellectually …