Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia [PDF]
Frontiers in Neurology, 2021 Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature.
Liena Elsayed +2 more
exaly +10 more sources
The Unconventional Role of ABHD17A in Increasing the S-Palmitoylation and Antiviral Activity of IFITM1 by Downregulating ABHD16A [PDF]
BiomoleculesThe broad-spectrum antiviral functions of interferon-inducible transmembrane 1 (IFITM1) rely on S-palmitoylation post-translational modification.
Huimin Liu, Xuemeng Shi, Jun Xu
exaly +7 more sources
Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12 [PDF]
ACS Medicinal Chemistry Letters, 2023 12-Thiazole abietanes are highly selective reversible inhibitors of hABHD16A that could potentially alleviate neuroinflammation. In this study, we used synthetic chemistry, competitive activity-based protein profiling, and computational methodologies to try to establish relevant structural determinants of activity and selectivity of this class of ...
Vania M Moreira +2 more
exaly +9 more sources
ABHD16A Negatively Regulates the Palmitoylation and Antiviral Function of IFITM Proteins [PDF]
MBio, 2022 Interferon-inducible transmembrane (IFITM) proteins are small homologous proteins that are encoded by the interferon-stimulated genes (ISGs), which can be strongly induced by interferon (IFN) and provide resistance to invasion by a variety of viral ...
Xuemeng Shi, Jun Xu
exaly +6 more sources
Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease [PDF]
Open Biology, 2018 Abhydrolase domain containing 16A (ABHD16A) is a member of the α/β hydrolase domain-containing (ABHD) protein family and is expressed in a variety of animal cells.
Wenming Zheng, Jun Xu
exaly +5 more sources
Depalmitoylase ABHD16A negatively regulates the anti-hepatitis B virus activity of IFITM1 [PDF]
Microbiology SpectrumInterferon-inducible transmembrane (IFITM) proteins have been widely reported as antiviral factors against various viral pathogens. However, the mechanisms of IFITM regulation on hepatitis B virus (HBV), which induces chronic infection resulting in ...
Xuemeng Shi, Jun Xu
exaly +6 more sources
Swine RNF5 positively regulates the antiviral activity of IFITM1 by mediating the degradation of ABHD16A [PDF]
Journal of VirologyInterferon-inducible transmembrane (IFITM) proteins are broad-spectrum antiviral factors that confer cellular resistance to virus invasion. α/β-Hydrolase domain-containing 16A (ABHD16A) has recently been identified as a novel depalmitoylase that can ...
Xuemeng Shi +10 more
exaly +6 more sources
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies [PDF]
American Journal of Human Genetics, 2021 ABHD16A (abhydrolase domain-containing protein 16A, phospholipase) encodes the major phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine, an important signaling lipid that functions in the mammalian central nervous system. ABHD16A has not yet been associated with a human disease. In this report, we present a cohort
Maha Zaki, Jo Gleeson, Taila Hartley
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PLoS ONE, 2014 BackgroundHuman lymphocyte antigen B-associated transcript 5 (BAT5, also known as ABHD16A) is a poorly characterized 63 kDa protein belonging to the α/β-hydrolase domain (ABHD) containing family of metabolic serine hydrolases.
Juha Savinainen +2 more
exaly +6 more sources
Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review [PDF]
Frontiers in PediatricsBackgroundHereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder. Biallelic pathogenic variants in ABHD16A have recently been linked to a neurodevelopmental phenotype featuring early-onset spasticity ...
Yiyun Huang, Xin Fan, Shaoke Chen
exaly +7 more sources