G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Piao, Xiangshu; Hill, Sean S.; Bodell, Adria; Chang, Bernard S.; Basel‐Vanagaite, Lina; Straussberg, Rachel; Dobyns, William B.; Qasrawi, B.; Winter, R M; Innes, A. Micheil; Voït, Thomas; Ross, M. Elizabeth; Michaud, Jacques L.; Déscarie, Jean Claude; Barkovich, A. James; Walsh, Christopher A.

doi:10.1126/science.1092780

Cited by 496 publications

(434 citation statements)

References 30 publications

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“…There is, however, an overlap with other conditions as mentioned previously. Patients with GPR56 mutations have bilateral frontoparietal polymicrogyria seen in an anteroposterior distribution, bilateral patchy white matter changes and brainstem and cerebellar hypoplasia (282). Whilst the MRI findings are clearly similar to those seen in the midgroup of patients reported here (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23), the polymicrogyria seen in patients with GPR56 mutations affects predominantly the fronto-parietal regions and not the temporal and occipital areas also seen in patient with a dystroglycanopathy (302).…”

Section: Discussionsupporting

confidence: 49%

Congenital Muscular Dystrophy

Oh¹,

Park²,

Yun³

et al. 2012

Atlas of Genetic Diagnosis and Counseling

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The second part of the thesis is concerned with the dystroglycanopathies, a recently described group of CMDs associated with aberrant glycosylation of alpha dystroglycan.To date, 7 genes have been identified, some of which give rise to multiple dystroglycanopathy phenotypes. I studied the genotype-phenotype relationship in a large group of dystroglycanopathy patients, reporting new clinical phenotypes and establishing the mutation frequency in this group. I also report in detail the spectrum of MRI brain changes seen in 27 dystroglycanopathy patients.In summary, this work reports the diagnostic outcome in the largest cohort of UK CMD cases studied and refines the genotype-phenotype correlation in patients with dystroglycanopathies.

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Section: Discussionsupporting

confidence: 49%

Congenital Muscular Dystrophy

Oh¹,

Park²,

Yun³

et al. 2012

Atlas of Genetic Diagnosis and Counseling

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“…The same may also be true for human disease genes causing regional cortical malformations (Barkovich et al, 2012). For example, mutations in GPR56 were initially identified as causative of regional polymicrogyria, only in the frontoparietal cortex while sparing the rest of the brain (Piao et al, 2004). Recently it has been demonstrated that GPR56 expression is strictly regionalized and regulated in a very complex manner, and new subtle mutations in its enhancer regions have been recently identified as causative of patterned cortical malformations in humans.…”

Section: Beyond Cortical Expansion: Gyrificationmentioning

confidence: 99%

Coevolution of radial glial cells and the cerebral cortex

Romero

Borrell

2015

Glia

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Radial glia cells play fundamental roles in the development of the cerebral cortex, acting both as the primary stem and progenitor cells, as well as the guides for neuronal migration and lamination. These critical functions of radial glia cells in cortical development have been discovered mostly during the last 15 years and, more recently, seminal studies have demonstrated the existence of a remarkable diversity of additional cortical progenitor cell types, including a variety of basal radial glia cells with key roles in cortical expansion and folding, both in ontogeny and phylogeny. In this review, we summarize the main cellular and molecular mechanisms known to be involved in cerebral cortex development in mouse, as the currently preferred animal model, and then compare these with known mechanisms in other vertebrates, both mammal and nonmammal, including human. This allows us to present a global picture of how radial glia cells and the cerebral cortex seem to have coevolved, from reptiles to primates, leading to the remarkable diversity of vertebrate cortical phenotypes. GLIA 2015;63:1303–1319

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“…More recently, deficiency in GPS cleavage has been linked to human genetic disorders. As such, point mutations affecting the GPS cleavage of GPR56 and polycystin-1 have been implicated as the causes of bilateral frontoparietal polymicrogyria (BFPP) and autosomal dominant polycystic kidney disease (ADPKD), respectively [14,15]. Therefore, GPS cleavage appears to be an inherent and essential post-translational modification for the expression, presentation and function of adhesion-GPCRs.…”

Section: Introductionmentioning

confidence: 99%

Site‐specific N‐glycosylation regulates the GPS auto‐proteolysis of CD97

et al. 2009

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a b s t r a c tAuto-proteolysis at the G protein-coupled receptor (GPCR) proteolytic site (GPS) is a hallmark of adhesion-GPCRs. Although defects in GPS auto-proteolysis have been linked to genetic disorders, information on its regulation remains elusive. Here, we investigated the GPS proteolysis of CD97, a human leukocyte-restricted and tumor-associated adhesion-GPCR. We found that CD97 is incompletely processed, unlike its close homolog, epidermal growth factor-like module-containing mucin-like hormone receptor 2. A unique pattern of N-glycosylation within the GPS motif of related adhesion-GPCRs was identified. The use of N-glycosylation inhibitors and mutants confirm site-specific N-glycosylation is an important determinant of GPS proteolysis in CD97. Our results suggest that N-glycosylation may regulate the processing of adhesion-GPCRs leading to the production of either cleaved or uncleaved molecules.

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Cited by 496 publications

References 30 publications

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy

Coevolution of radial glial cells and the cerebral cortex

Site‐specific N‐glycosylation regulates the GPS auto‐proteolysis of CD97

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