Results 21 to 30 of about 1,858 (192)

The function and regulation of CIA5/CCM1 in Chlamydomonas reinhardtii

, 2018
We demonstrate that CIA5, the master CCM transcription regulator of the Chlamydomonas CCM, has transcription activation activity either in yeast or in Chlamydomonas, and has an acidic activation domain that also is responsible for abnormal SDS-PAGE migration. We are also the first successful overexpression and purification of CIA5 protein from E. coli.,
Chen, Bo
openaire   +4 more sources

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view [PDF]

Frontiers in Neuroscience, 2023
Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jizong Zhao, Jizong Zhao, Jun Dong   +12 more
doaj   +2 more sources

KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions [PDF]

The Journal of Cell Biology, 2007
Cerebral cavernous malformation (CCM), a disease associated with defective endothelial junctions, result from autosomal dominant CCM1 mutations that cause loss of KRIT-1 protein function, though how the loss of KRIT-1 leads to CCM is obscure. KRIT-1 binds to Rap1, a guanosine triphosphatase that maintains the integrity of endothelial junctions.
Glading, Angela, Han, Jaewon, Stockton, Rebecca A, Ginsberg, Mark H   +3 more
openaire   +5 more sources

Hyaluronic acid turnover controls the severity of cerebral cavernous malformations in bioengineered human micro-vessels [PDF]

APL Bioengineering
Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly form in blood vessels of the central nervous system upon loss of the CCM multimeric protein complex.
Teodor E. Yordanov, Mikaela S. Keyser, Marco A. Enriquez Martinez, Tyron Esposito, Juliann B. Tefft, Elysse K. Morris, Larisa I. Labzin, Samantha J. Stehbens, Alan E. Rowan, Benjamin M. Hogan, Christopher S. Chen, Jan Lauko, Anne K. Lagendijk   +12 more
doaj   +2 more sources

Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature. [PDF]

Int J Mol Sci, 2023
Cerebral cavernous malformation (CCM) is a neurovascular disease that can lead to seizures and stroke-like symptoms. The familial form is caused by a heterozygous germline mutation in either the CCM1, CCM2, or CCM3 gene.
Pilz RA, Skowronek D, Mellinger L, Bekeschus S, Felbor U, Rath M.   +5 more
europepmc   +3 more sources

CCM2 Expression Parallels That of CCM1 [PDF]

Stroke, 2006
Background and Purpose— Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive.
Askin, Seker, Katie L, Pricola, Bulent, Guclu, Ali K, Ozturk, Angeliki, Louvi, Murat, Gunel   +5 more
openaire   +2 more sources

Ccm1 Assures Microvascular Integrity During Angiogenesis [PDF]

Translational Stroke Research, 2010
Cerebral cavernous malformations (CCM) are characterized by abnormal dilated intracranial capillaries that predispose to hemorrhage. The development of some CCMs in humans has been attributed to mutations in the CCM1 genes. Currently, contradictory results have been generated regarding the vascular endothelial cell population changes in Ccm1 deficiency
Huiling, Liu, Daniele, Rigamonti, Ahmed, Badr, Jun, Zhang   +3 more
openaire   +2 more sources

NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation–mediated CCM1/2 expression

The Journal of Clinical Investigation, 2022
The loss function of cerebral cavernous malformation (CCM) genes leads to most CCM lesions characterized by enlarged leaking vascular lesions in the brain.
Zhi Fang, Xiaoran Sun, Xiang Wang, Ji Ma, Thomas Palaia, Ujala Rana, Benjamin Miao, Louis Ragolia, Wenquan Hu, Qing Robert Miao   +9 more
doaj   +1 more source

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice.

PLoS Biology, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A Vadas, Jennifer R Gamble   +12 more
doaj   +1 more source

Novel functions of CCM1 delimit the relationship of PTB/PH domains [PDF]

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2017
Three NPXY motifs and one FERM domain in CCM1 makes it a versatile scaffold protein for tethering the signaling components together within the CCM signaling complex (CSC). The cellular role of CCM1 protein remains inadequately expounded. Both phosphotyrosine binding (PTB) and pleckstrin homology (PH) domains were recognized as structurally related but ...
Jun, Zhang, Pallavi, Dubey, Akhil, Padarti, Aileen, Zhang, Rinkal, Patel, Vipulkumar, Patel, David, Cistola, Ahmed, Badr   +7 more
openaire   +2 more sources