International union of basic and clinical pharmacology. CI. Structures and small molecule modulators of mammalian adenylyl cyclases
Adenylyl cyclases (ACs) generate the second messenger cAMP from ATP. Mammalian cells
express nine transmembrane AC (mAC) isoforms (AC1–9) and a soluble AC (sAC, also …
express nine transmembrane AC (mAC) isoforms (AC1–9) and a soluble AC (sAC, also …
Dystonia
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …
Physiological roles of mammalian transmembrane adenylyl cyclase isoforms
KF Ostrom, JE LaVigne, TF Brust… - Physiological …, 2022 - journals.physiology.org
Adenylyl cyclases (ACs) catalyze the conversion of ATP to the ubiquitous second
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …
Genetic mimics of cerebral palsy
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …
The structure of a membrane adenylyl cyclase bound to an activated stimulatory G protein
Membrane-integral adenylyl cyclases (ACs) are key enzymes in mammalian heterotrimeric
GTP-binding protein (G protein)–dependent signal transduction, which is important in many …
GTP-binding protein (G protein)–dependent signal transduction, which is important in many …
Update on the genetics of dystonia
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …
Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up
M Zech, S Boesch, A Jochim, S Weber… - Movement …, 2017 - Wiley Online Library
Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations
Objective: To define molecular mechanisms underlying the clinical spectrum of epilepsy and
movement disorder in individuals with de novo mutations in the GNAO1 gene. Methods: We …
movement disorder in individuals with de novo mutations in the GNAO1 gene. Methods: We …
An update on the phenotype, genotype and neurobiology of ADCY5‐related disease
A Ferrini, D Steel, K Barwick, MA Kurian - Movement Disorders, 2021 - Wiley Online Library
ABSTRACT Adenylyl cyclase 5 (ADCY5)‐related phenotypes comprise an expanding
disease continuum, but much remains to be understood about the underlying pathogenic …
disease continuum, but much remains to be understood about the underlying pathogenic …
Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias
G Garone, A Capuano, L Travaglini, F Graziola… - International Journal of …, 2020 - mdpi.com
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …
manifesting with intermittent attacks of abnormal involuntary movements. Two main …