1
|
Bray SJ: Notch signalling in context. Nat
Rev Mol Cell Biol. 17:722–735. 2016.PubMed/NCBI View Article : Google Scholar
|
2
|
Domenga V, Fardoux P, Lacombe P, Monet M,
Maciazek J, Krebs LT, Klonjkowski B, Berrou E, Mericskay M, Li Z,
et al: Notch3 is required for arterial identity and maturation of
vascular smooth muscle cells. Genes Dev. 18:2730–2735.
2004.PubMed/NCBI View Article : Google Scholar
|
3
|
Wang T, Baron M and Trump D: An overview
of Notch3 function in vascular smooth muscle cells. Prog Biophys
Mol Biol. 96:499–509. 2008.PubMed/NCBI View Article : Google Scholar
|
4
|
Joutel A, Corpechot C, Ducros A, Vahedi K,
Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M,
Marechal E, et al: Notch3 mutations in CADASIL, a hereditary
adult-onset condition causing stroke and dementia. Nature.
383:707–710. 1996.PubMed/NCBI View
Article : Google Scholar
|
5
|
Hervé D and Chabriat H: Cadasil. J Geriatr
Psychiatry Neurol. 23:269–276. 2010.PubMed/NCBI View Article : Google Scholar
|
6
|
Joutel A, Vahedi K, Corpechot C, Troesch
A, Chabriat H, Vayssière C, Cruaud C, Maciazek J, Weissenbach J,
Bousser MG, et al: Strong clustering and stereotyped nature of
Notch3 mutations in CADASIL patients. Lancet. 350:1511–1515.
1997.PubMed/NCBI View Article : Google Scholar
|
7
|
Dichgans M, Ludwig H, Müller-Höcker J,
Messerschmidt A and Gasser T: Small in-frame deletions and missense
mutations in CADASIL: 3D models predict misfolding of Notch3
EGF-like repeat domains. Eur J Hum Genet. 8:280–285.
2000.PubMed/NCBI View Article : Google Scholar
|
8
|
Duering M, Karpinska A, Rosner S, Hopfner
F, Zechmeister M, Peters N, Kremmer E, Haffner C, Giese A, Dichgans
M, et al: Co-aggregate formation of CADASIL-mutant NOTCH3: A
single-particle analysis. Hum Mol Genet. 20:3256–3265.
2011.PubMed/NCBI View Article : Google Scholar
|
9
|
Cognat E, Baron-Menguy C, Domenga-Denier
V, Cleophax S, Fouillade C, Monet-Leprêtre M, Dewerchin M and
Joutel A: Archetypal Arg169Cys mutation in NOTCH3 does not drive
the pathogenesis in cerebral autosomal dominant arteriopathy with
subcortical infarcts and leucoencephalopathy via a loss-of-function
mechanism. Stroke. 45:842–849. 2014.PubMed/NCBI View Article : Google Scholar
|
10
|
Joutel A: Pathogenesis of CADASIL:
Transgenic and knock-out mice to probe function and dysfunction of
the mutated gene, Notch3, in the cerebrovasculature. BioEssays.
33:73–80. 2011.PubMed/NCBI View Article : Google Scholar
|
11
|
Rutten JW, Haan J, Terwindt GM, van Duinen
SG, Boon EM and Lesnik Oberstein SA: Interpretation of NOTCH3
mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn.
14:593–603. 2014.PubMed/NCBI View Article : Google Scholar
|
12
|
Yamaguchi N, Oyama T, Ito E, Satoh H,
Azuma S, Hayashi M, Shimizu K, Honma R, Yanagisawa Y, Nishikawa A,
et al: NOTCH3 signaling pathway plays crucial roles in the
proliferation of ErbB2-negative human breast cancer cells. Cancer
Res. 68:1881–1888. 2008.PubMed/NCBI View Article : Google Scholar
|
13
|
Song G, Zhang Y and Wang L: MicroRNA-206
targets notch3, activates apoptosis, and inhibits tumor cell
migration and focus formation. J Biol Chem. 284:31921–31927.
2009.PubMed/NCBI View Article : Google Scholar
|
14
|
Miao Q, Paloneva T, Tuisku S, Roine S,
Poyhonen M, Viitanen M and Kalimo H: Arterioles of the lenticular
nucleus in CADASIL. Stroke. 37:2242–2247. 2006.PubMed/NCBI View Article : Google Scholar
|
15
|
Dong H, Blaivas M and Wang MM:
Bidirectional encroachment of collagen into the tunica media in
cerebral autosomal dominant arteriopathy with subcortical infarcts
and leukoencephalopathy. Brain Res. 1456:64–71. 2012.PubMed/NCBI View Article : Google Scholar
|
16
|
Grandbarbe L, Michelucci A, Heurtaux T,
Hemmer K, Morga E and Heuschling P: Notch signaling modulates the
activation of microglial cells. Glia. 55:1519–1530. 2007.PubMed/NCBI View Article : Google Scholar
|
17
|
Yao L, Cao Q, Wu C, Kaur C, Hao A and Ling
EA: Notch signaling in the central nervous system with special
reference to its expression in microglia. CNS Neurol Disord Drug
Targets. 12:807–814. 2013.PubMed/NCBI View Article : Google Scholar
|
18
|
Dichgans M: Cognition in CADASIL. Stroke.
40 (Suppl):S45–S47. 2009.PubMed/NCBI View Article : Google Scholar
|
19
|
Aburjania Z, Jang S, Whitt J,
Jaskula-Stzul R, Chen H and Rose JB: The Role of Notch3 in Cancer.
Oncologist. 23:900–911. 2018.PubMed/NCBI View Article : Google Scholar
|
20
|
Edwards JR, Yarychkivska O, Boulard M and
Bestor TH: DNA methylation and DNA methyltransferases. Epigenetics
Chromatin. 10(23)2017.PubMed/NCBI View Article : Google Scholar
|
21
|
Meester JAN, Verstraeten A, Alaerts M,
Schepers D, Van Laer L and Loeys BL: Overlapping but distinct roles
for NOTCH receptors in human cardiovascular disease. Clin Genet.
95:85–94. 2019.PubMed/NCBI View Article : Google Scholar
|
22
|
Southgate L, Sukalo M, Karountzos ASV,
Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie
JL, Joss S, et al: Haploinsufficiency of the NOTCH1 Receptor as a
Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circ Cardiovasc Genet. 8:572–581. 2015.PubMed/NCBI View Article : Google Scholar
|
23
|
Kerstjens-Frederikse WS, van de Laar IM,
Vos YJ, Verhagen JM, Berger RM, Lichtenbelt KD, Klein
Wassink-Ruiter JS, van der Zwaag PA, du Marchie Sarvaas GJ, Bergman
KA, et al: Cardiovascular malformations caused by NOTCH1 mutations
do not keep left: Data on 428 probands with left-sided CHD and
their families. Genet Med. 18:914–923. 2016.PubMed/NCBI View Article : Google Scholar
|
24
|
Mohamed SA, Aherrahrou Z, Liptau H, Erasmi
AW, Hagemann C, Wrobel S, Borzym K, Schunkert H, Sievers HH and
Erdmann J: Novel missense mutations (p.T596M and p.P1797H) in
NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res
Commun. 345:1460–1465. 2006.PubMed/NCBI View Article : Google Scholar
|
25
|
McDaniell R, Warthen DM, Sanchez-Lara PA,
Pai A, Krantz ID, Piccoli DA and Spinner NB: NOTCH2 mutations cause
Alagille syndrome, a heterogeneous disorder of the notch signaling
pathway. Am J Hum Genet. 79:169–173. 2006.PubMed/NCBI View
Article : Google Scholar
|
26
|
Haritunians T, Chow T, De Lange RP,
Nichols JT, Ghavimi D, Dorrani N, St Clair DM, Weinmaster G and
Schanen C: Functional analysis of a recurrent missense mutation in
Notch3 in CADASIL. J Neurol Neurosurg Psychiatry. 76:1242–1248.
2005.PubMed/NCBI View Article : Google Scholar
|
27
|
Miao Q, Paloneva T, Tuominen S, Pöyhönen
M, Tuisku S, Viitanen M and Kalimo H: Fibrosis and stenosis of the
long penetrating cerebral arteries: The cause of the white matter
pathology in cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy. Brain Pathol.
14:358–364. 2004.PubMed/NCBI View Article : Google Scholar
|
28
|
Oide T, Nakayama H, Yanagawa S, Ito N,
Ikeda S and Arima K: Extensive loss of arterial medial smooth
muscle cells and mural extracellular matrix in cerebral autosomal
recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL). Neuropathology. 28:132–142.
2008.PubMed/NCBI View Article : Google Scholar
|
29
|
Miao Q, Kalimo H, Bogdanovic N, Kostulas
K, Börjesson-Hanson A and Viitanen M: Cerebral arteriolar pathology
in a 32-year-old patient with CADASIL. Neuropathol Appl Neurobiol.
32:455–458. 2006.PubMed/NCBI View Article : Google Scholar
|
30
|
DeMartino AW, Kim-Shapiro DB, Patel RP and
Gladwin MT: Nitrite and nitrate chemical biology and signalling. Br
J Pharmacol. 176:228–245. 2019.PubMed/NCBI View Article : Google Scholar
|
31
|
Peters N, Freilinger T, Opherk C,
Pfefferkorn T and Dichgans M: Enhanced L-arginine-induced
vasoreactivity suggests endothelial dysfunction in CADASIL. J
Neurol. 255:1203–1208. 2008.PubMed/NCBI View Article : Google Scholar
|
32
|
Ling Y, De Guio F, Jouvent E, Duering M,
Hervé D, Guichard JP, Godin O, Dichgans M and Chabriat H: Clinical
correlates of longitudinal MRI changes in CADASIL. J Cereb Blood
Flow Metab. 39:1299–1305. 2019.PubMed/NCBI View Article : Google Scholar
|
33
|
Hassan WA, Udaka N, Ueda A, Ando Y and Ito
T: Neoplastic lesions in CADASIL syndrome: Report of an autopsied
Japanese case. Int J Clin Exp Pathol. 8:7533–7539. 2015.PubMed/NCBI
|
34
|
Søndergaard CB, Nielsen JE, Hansen CK and
Christensen H: Hereditary cerebral small vessel disease and stroke.
Clin Neurol Neurosurg. 155:45–57. 2017.PubMed/NCBI View Article : Google Scholar
|
35
|
Müller K, Courtois G, Ursini MV and
Schwaninger M: New Insight Into the Pathogenesis of Cerebral
Small-Vessel Diseases. Stroke. 48:520–527. 2017.PubMed/NCBI View Article : Google Scholar
|
36
|
Baccarelli A, Wright R, Bollati V,
Litonjua A, Zanobetti A, Tarantini L, Sparrow D, Vokonas P and
Schwartz J: Ischemic heart disease and stroke in relation to blood
DNA methylation. Epidemiology. 21:819–828. 2010.PubMed/NCBI View Article : Google Scholar
|
37
|
Altuna M, Urdánoz-Casado A, Sánchez-Ruiz
de Gordoa J, Zelaya MV, Labarga A, Lepesant JMJ, Roldán M,
Blanco-Luquin I, Perdones Á, Larumbe R, et al: DNA methylation
signature of human hippocampus in Alzheimer's disease is linked to
neurogenesis. Clin Epigenetics. 11(91)2019.PubMed/NCBI View Article : Google Scholar
|
38
|
Yokoyama AS, Rutledge JC and Medici V: DNA
methylation alterations in Alzheimer's disease. Environ Epigenet.
3(dvx008)2017.PubMed/NCBI View Article : Google Scholar
|
39
|
Bihaqi SW and Zawia NH: Alzheimer's
disease biomarkers and epigenetic intermediates following exposure
to Pb in vitro. Curr Alzheimer Res. 9:555–562. 2012.PubMed/NCBI View Article : Google Scholar
|
40
|
Bialopiotrowicz E, Szybinska A, Kuzniewska
B, Buizza L, Uberti D, Kuznicki J and Wojda U: Highly pathogenic
Alzheimer's disease presenilin 1 P117R mutation causes a specific
increase in p53 and p21 protein levels and cell cycle dysregulation
in human lymphocytes. J Alzheimers Dis. 32:397–415. 2012.PubMed/NCBI View Article : Google Scholar
|
41
|
Enane FO, Saunthararajah Y and Korc M:
Differentiation therapy and the mechanisms that terminate cancer
cell proliferation without harming normal cells. Cell Death Dis.
9:912–926. 2018.PubMed/NCBI View Article : Google Scholar
|