Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in α-SNAP

Bátiz, Luis Federico; Páez, Patricia; Jiménez, Antonio J.; Rodrı́guez, Sara; Wagner, Claudio; Pérez-Fígares, J. M.; Rodríguez, Estéban M.

doi:10.1016/j.nbd.2006.02.009

Cited by 40 publications

(45 citation statements)

References 59 publications

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“…One of them, the hyh mouse, displays phenotypical characteristics, such as time of onset, type of abnormal CSF dynamics, clinical evolution, and survival/death rate [22,42,50,51], that are similar to those found in several types of human congenital hydrocephalus. In hyh mice, the VZ disruption follows a program that has temporal and spatial patterns.…”

Section: Vz Disruption In the Cerebral Aqueduct Leads To Aqueduct Stementioning

confidence: 92%

“…These abnormalities, and the formation of subependymal rosettes in the disrupted areas, strongly suggest that VZ disruption results from a defect in cell polarity and cell-to-cell adhesion of VZ cells. This may explain how a series of different genetic defects affecting the vesicle transport in VZ cells finally leads to their disruption, hydrocephalus, and abnormal neurogenesis [20,21,[27][28][29][30][42][43][44].…”

Section: Rodríguez/guerramentioning

confidence: 99%

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Neural Stem Cells and Fetal-Onset Hydrocephalus

Rodríguez¹,

Guerra²

2017

Pediatr Neurosurg

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Fetal-onset hydrocephalus is not only a disorder of cerebrospinal fluid (CSF) dynamics, but also a brain disorder. How can we explain the inborn and, so far, irreparable neurological impairment in children born with hydrocephalus? We hypothesize that a cell junction pathology of neural stem cells (NSC) leads to two inseparable phenomena: hydrocephalus and abnormal neurogenesis. All neurons, glial cells, and ependymal cells of the mammalian central nervous system originate from the NSC forming the ventricular zone (VZ) and the neural progenitor cells (NPC) forming the subventricular zone. Several genetic mutations and certain foreign signals all convey into a final common pathway leading to cell junction pathology of NSC and VZ disruption. VZ disruption follows a temporal and spatial pattern; it leads to aqueduct obliteration and hydrocephalus in the cerebral aqueduct, while it results in abnormal neurogenesis in the telencephalon. The disrupted NSC and NPC are released into the CSF and may transform into neurospheres displaying a junctional pathology similar to that of NSC of the disrupted VZ. These cells can then be utilized to investigate molecular alterations underlying the disease and open an avenue into possible NSC therapy.

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Section: Vz Disruption In the Cerebral Aqueduct Leads To Aqueduct Stementioning

confidence: 92%

Section: Rodríguez/guerramentioning

confidence: 99%

Neural Stem Cells and Fetal-Onset Hydrocephalus

Rodríguez¹,

Guerra²

2017

Pediatr Neurosurg

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“…In brief, abnormal cell junctions of the VZ cells appear as a fi nal common pathway in the alteration of a series of molecules directly or indirectly involved in the assembly of adherens and gap junctions (Chae et al, 2004;Ferland et al, 2009;Sival et al, 2010;Bátiz et al, 2006;Klezovitch et al, 2004;Imai et al, 2006;Ma et al, 2007;Rasin et al, 2007;Nechiporuk et al, 2007). This may explain how a series of diff erent genetic defects aff ecting the VZ/ependyma fi nally leads to its disruption, hydrocephalus and abnormal neurogenesis.…”

Section: Cellular and Molecular Mechanisms Of Ventricu-lar Zone Disrumentioning

confidence: 99%

A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalus

et al. 2012

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Most cells of the developing mammalian brain derive from the ventricular (VZ) and the subventricular (SVZ) zones. The VZ is formed by the multipotent radial glia/neural stem cells (NSCs) while the SVZ harbors the rapidly proliferative neural precursor cells (NPCs). Evidence from human and animal models indicates that the common history of hydrocephalus and brain maldevelopment starts early in embryonic life with disruption of the VZ and SVZ. We propose that a "cell junction pathology" involving adherent and gap junctions is a fi nal common outcome of a wide range of gene mutations resulting in proteins abnormally expressed by the VZ cells undergoing disruption. Disruption of the VZ during fetal development implies the loss of NSCs whereas VZ disruption during the perinatal period implies the loss of ependyma. The process of disruption occurs in specifi c regions of the ventricular system and at specifi c stages of brain development. This explains why only certain brain structures have an abnormal development, which in turn results in a specifi c neurological impairment of the newborn. Disruption of the VZ of the Sylvian aqueduct (SA) leads to aqueductal stenosis and hydrocephalus, while disruption of the VZ of telencephalon impairs neurogenesis. We are currently investigating whether grafting of NSCs/neurospheres from normal rats into the CSF of hydrocephalic mutants helps to diminish/repair the outcomes of VZ disruption.

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“…Indeed previous genetic analysis demonstrated lethality of ␣SNAP deletion in Drosophila mutants (61). Furthermore, the so-called hyh mutation that decreases ␣SNAP expression in mice (62,63) was also shown to impair animal survival and development (64). Interestingly, homozygous hyh mice are characterized by progressive loss of neuroepithelium in brain ventricles (65,66), which is consistent with the weakening of ECM and cell-cell adhesions of ␣SNAP-depleted cells.…”

Section: Discussionmentioning

confidence: 62%

N-Ethylmaleimide-sensitive Factor Attachment Protein α (αSNAP) Regulates Matrix Adhesion and Integrin Processing in Human Epithelial Cells

Naydenov

Feygin

Wang

et al. 2014

Journal of Biological Chemistry

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Background: Vesicle trafficking plays important roles in regulating cell adhesion and motility. Results: Depletion of the membrane fusion protein, N-ethylmaleimide-sensitive factor attachment protein ␣ (␣SNAP), induced cell detachment, whereas overexpression of this vesicle regulator increased cell-matrix adhesion. Conclusion: ␣SNAP promotes cell-matrix adhesion by controlling integrin trafficking and assembly of focal adhesions. Significance: The ␣SNAP level may serve as a molecular rheostat controlling matrix adhesion and cell motility under normal conditions and in diseases.

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Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in α-SNAP

Cited by 40 publications

References 59 publications

Neural Stem Cells and Fetal-Onset Hydrocephalus

Neural Stem Cells and Fetal-Onset Hydrocephalus

A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalus

N-Ethylmaleimide-sensitive Factor Attachment Protein α (αSNAP) Regulates Matrix Adhesion and Integrin Processing in Human Epithelial Cells

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