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 …

Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Adenylyl cyclases (ACs) catalyze the conversion of ATP to the ubiquitous second
messenger cAMP. Mammals possess nine isoforms of transmembrane ACs, dubbed AC1–9 …

The nine different membrane-anchored adenylyl cyclase isoforms (AC1–9) in mammals are
stimulated by the heterotrimeric G protein, Gαs, but their response to Gβγ regulation is …

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 …

ABSTRACT Background Adenylyl cyclase 5 (ADCY5) mutations is associated with
heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and …

Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …

ABSTRACT Adenylyl cyclase 5 (ADCY5)‐related phenotypes comprise an expanding
disease continuum, but much remains to be understood about the underlying pathogenic …

Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …

Background ADCY5‐related dyskinesia is characterized by early‐onset movement
disorders. There is currently no validated treatment, but anecdotal clinical reports and …