Adhesion protein structure, molecular affinities, and principles of cell-cell recognition

B Honig, L Shapiro - Cell, 2020 - cell.com
The ability of cells to organize into multicellular structures in precise patterns requires that
they" recognize" one another with high specificity. We discuss recent progress in …

Protocadherins at the crossroad of signaling pathways

A Pancho, T Aerts, MD Mitsogiannis… - Frontiers in Molecular …, 2020 - frontiersin.org
Protocadherins (Pcdhs) are cell adhesion molecules that belong to the cadherin
superfamily, and are subdivided into clustered (cPcdhs) and non-clustered Pcdhs (ncPcdhs) …

Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy

DT Pederick, KL Richards, SG Piltz, R Kumar… - Neuron, 2018 - cell.com
X-linked diseases typically exhibit more severe phenotypes in males than females. In
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but …

Regulation of neural circuit formation by protocadherins

SL Peek, KM Mah, JA Weiner - Cellular and molecular life sciences, 2017 - Springer
The protocadherins (Pcdhs), which make up the most diverse group within the cadherin
superfamily, were first discovered in the early 1990s. Data implicating the Pcdhs, including …

[HTML][HTML] X-chromosome regulation and sex differences in brain anatomy

A Raznahan, CM Disteche - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Humans show reproducible sex-differences in cognition and psychopathology that may be
contributed to by influences of gonadal sex-steroids and/or sex-chromosomes on regional …

PCDH19-related epilepsy syndrome: a comprehensive clinical review

D Samanta - Pediatric neurology, 2020 - Elsevier
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by
brief clusters of febrile and afebrile seizures with onset primarily before the age of three …

The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of …

S Bassani, AW Cwetsch, L Gerosa… - Human molecular …, 2018 - academic.oup.com
Abstract The PCDH19 gene (Xp22. 1) encodes the cell-adhesion protein protocadherin-19
(PCDH19) and is responsible for a neurodevelopmental pathology characterized by female …

Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression

G Giansante, S Mazzoleni, AG Zippo, L Ponzoni… - Molecular …, 2024 - nature.com
Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause
Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of PCDH19 …

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report

M Kurian, CM Korff, E Ranza… - … Medicine & Child …, 2018 - Wiley Online Library
In this case report we assess the occurrence of cortical malformations in children with early
infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH 19). We …

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

R de Nys, A Gardner, C van Eyk… - Molecular …, 2024 - nature.com
Clustering Epilepsy (CE) is a neurological disorder caused by pathogenic variants of the
Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell adhesion …