Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Loss ofcerebral cavernous malformation 3(Ccm3) in neuroglia leads to CCM and vascular pathology

(2011) Angeliki Louvi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Florence Riant et al.   FEBS Journal

Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction

(2010) Eva Faurobert et al.   FEBS Journal

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

(2010) D. A. McDonald et al.   HUMAN MOLECULAR GENETICS

Crystal Structure of CCM3, a Cerebral Cavernous Malformation Protein Critical for Vascular Integrity

(2010) Xiaofeng Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype

(2010) Asya L. Borikova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CCM1 regulates vascular-lumen organization by inducing endothelial polarity

(2010) M. G. Lampugnani et al.   JOURNAL OF CELL SCIENCE

CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation

(2010) M. Fidalgo et al.   JOURNAL OF CELL SCIENCE

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

(2010) Xiangjian Zheng et al.   JOURNAL OF CLINICAL INVESTIGATION

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

(2010) Rebecca A. Stockton et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Ccm1 Regulates Microvascular Morphogenesis during Angiogenesis

(2010) Huiling Liu et al.   JOURNAL OF VASCULAR RESEARCH

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3

(2010) Elisa Schleider et al.   NEUROGENETICS

The pathogenetic features of cerebral cavernous malformations: a comprehensive review with therapeutic implications

(2010) Khaled M. Krisht et al.   Neurosurgical Focus

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution

(2010) Sanjay Yadla et al.   Neurosurgical Focus

Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations

(2010) Jan-Karl Burkhardt et al.   Neurosurgical Focus

KRIT1 Regulates the Homeostasis of Intracellular Reactive Oxygen Species

(2010) Luca Goitre et al.   PLoS One

Defining the Functional Domain of Programmed Cell Death 10 through Its Interactions with Phosphatidylinositol-3,4,5-Trisphosphate

(2010) Christopher F. Dibble et al.   PLoS One

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

(2010) Joycelyn Wüstehube et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stabilization of VEGFR2 Signaling by Cerebral Cavernous Malformation 3 Is Critical for Vascular Development

(2010) Y. He et al.   Science Signaling

Age-dependent endothelial nitric oxide synthase uncoupling in pulmonary arteries of endoglin heterozygous mice

(2009) J. Belik et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Cellular and Molecular Mechanisms of Vascular Lumen Formation

(2009) M. Luisa Iruela-Arispe et al.   DEVELOPMENTAL CELL

The Control of Vascular Integrity by Endothelial Cell Junctions: Molecular Basis and Pathological Implications

(2009) Elisabetta Dejana et al.   DEVELOPMENTAL CELL

Rap1 and its effector KRIT1/CCM1 regulate  -catenin signaling

(2009) A. J. Glading et al.   Disease Models & Mechanisms

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

(2009) Katrin Voss et al.   HUMAN MUTATION

Cerebral Cavernous Malformation 2 Protein Promotes Smad Ubiquitin Regulatory Factor 1-mediated RhoA Degradation in Endothelial Cells

(2009) Lisa E. S. Crose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Integrin signalling at a glance

(2009) D. S. Harburger et al.   JOURNAL OF CELL SCIENCE

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations

(2009) J Sirvente et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

(2009) Kevin J Whitehead et al.   NATURE MEDICINE

Regulation of cardiovascular development and integrity by the heart of glass–cerebral cavernous malformation protein pathway

(2009) Benjamin Kleaveland et al.   NATURE MEDICINE

BRAINSTEM CAVERNOUS MALFORMATIONS

(2009) Bradley A. Gross et al.   NEUROSURGERY

Radiosurgery for angiographically occult vascular malformations

(2009) Martin Pham et al.   Neurosurgical Focus

Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke

(2008) A. V. Gore et al.   Disease Models & Mechanisms

Structural and functional differences between KRIT1A and KRIT1B isoforms: A framework for understanding CCM pathogenesis

(2008) Floriana Francalanci et al.   EXPERIMENTAL CELL RESEARCH

Wnt/β-catenin signaling controls development of the blood–brain barrier

(2008) Stefan Liebner et al.   JOURNAL OF CELL BIOLOGY

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations

(2008) F. Gianfrancesco et al.   NEUROSCIENCE

Crosstalk of tight junction components with signaling pathways

(2007) Lorenza González-Mariscal et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES