Genetics of cavernous angiomas

P Labauge, C Denier, F Bergametti… - The Lancet …, 2007 - thelancet.com
Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a
sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large …

Protein phosphatase 2A–structure, function and role in neurodevelopmental disorders

P Sandal, CJ Jong, RA Merrill, J Song… - Journal of cell …, 2021 - journals.biologists.com
Neurodevelopmental disorders (NDDs), including intellectual disability (ID), autism and
schizophrenia, have high socioeconomic impact, yet poorly understood etiologies. A recent …

A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous …

M Goudreault, LM D'Ambrosio, MJ Kean… - Molecular & Cellular …, 2009 - ASBMB
The serine/threonine protein phosphatases are targeted to specific subcellular locations and
substrates in part via interactions with a wide variety of regulatory proteins. Understanding …

Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation

CC Gibson, W Zhu, CT Davis, JA Bowman-Kirigin… - Circulation, 2015 - Am Heart Assoc
Background—Cerebral cavernous malformation (CCM) is a hemorrhagic stroke disease
affecting up to 0.5% of North Americans that has no approved nonsurgical treatment. A …

Genotype–phenotype correlations in cerebral cavernous malformations patients

C Denier, P Labauge, F Bergametti… - Annals of Neurology …, 2006 - Wiley Online Library
Objective To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers.
Methods A detailed clinical and molecular analysis of 163 consecutive cerebral cavernous …

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

F Riant, F Bergametti, X Ayrignac, G Boulday… - The FEBS …, 2010 - Wiley Online Library
Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a
sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes …

Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development

Y He, H Zhang, L Yu, M Gunel, TJ Boggon, H Chen… - Science …, 2010 - science.org
Cerebral cavernous malformations (CCMs) are human vascular malformations caused by
mutations in three genes of unknown function: CCM1, CCM2, and CCM3. CCM3, also …

Structure-function analysis of core STRIPAK Proteins: a signaling complex implicated in Golgi polarization

MJ Kean, DF Ceccarelli, M Goudreault… - Journal of Biological …, 2011 - ASBMB
Cerebral cavernous malformations (CCMs) are alterations in brain capillary architecture that
can result in neurological deficits, seizures, or stroke. We recently demonstrated that CCM3 …

CCM3 signaling through sterile 20–like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations

X Zheng, C Xu, A Di Lorenzo… - The Journal of …, 2010 - Am Soc Clin Investig
Cerebral cavernous malformation is a common human vascular disease that arises due to
loss-of-function mutations in genes encoding three intracellular adaptor proteins, cerebral …

PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway

X Ma, H Zhao, J Shan, F Long, Y Chen… - Molecular biology of …, 2007 - Am Soc Cell Biol
PDCD10 (programmed cell death 10, TFAR15), a novel protein associated with cell
apoptosis has been recently implicated in mutations associated with Cerebral Cavernous …