The Neuroprotective Functions of Transforming Growth Factor Beta Proteins

Dobolyi, Árpád; Vincze, Csilla; Pál, Gábor; Lovas, Gábor

doi:10.3390/ijms13078219

Cited by 210 publications

(169 citation statements)

References 217 publications

(258 reference statements)

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“…18 The TGF-b pathway is critical for cellular growth, differentiation, and apoptosis and was shown to be an important driver in neurogenesis and central nervous system development. 19 Moreover, zebrafish wnt8a was shown to function in early-stage mesoderm patterning and posteriorization of the neuroectoderm. 20 In humans, BPTF is ubiquitously expressed.…”

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confidence: 99%

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz

Khan

Szafrański

et al. 2017

The American Journal of Human Genetics

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Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24.2. The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). Using CRISPR-Cas9 genome editing of bptf in zebrafish to induce a loss of gene function, we observed a significant reduction in head size of F0 mutants compared to control larvae. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and phospho-histone H3 (PH3) staining to assess apoptosis and cell proliferation, respectively, showed a significant increase in cell death in F0 mutants compared to controls. Additionally, we observed a substantial increase of the ceratohyal angle of the craniofacial skeleton in bptf F0 mutants, indicating abnormal craniofacial patterning. Taken together, our data demonstrate the pathogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the clinical spectrum of human disorders caused by ablation of chromatin remodeling complexes.

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confidence: 99%

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz

Khan

Szafrański

et al. 2017

The American Journal of Human Genetics

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“…The exact soluble components of the brain which are responsible for ANGPTL4 upregulation were not yet characterized. One of the candidate factors is TGFβ1, known to be up-regulated in the injured or inflamed brain [46][47][48][49].…”

Section: Discussionmentioning

confidence: 99%

Untitled

2017

Oncotarget

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“…study of cultured rat NG2 glia and protein expr. in mouse neonatal NG2 glia in vivo [65] Neuronal survival and modulation of synaptic transmission [190] Interleukin 1 Receptor Accessory Protein, Il1rap Gene expr. study of freshly sorted mouse NG2 glia [131] Neuronal survival [191] C-X-C Motif Chemokine Ligand 10, CxCl1 Gene expr.…”

Section: Neuregulinsmentioning

confidence: 99%

NG2 Glia: Novel Roles beyond Re-/Myelination

Parolisi

Boda

2018

Neuroglia

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Neuron-glia antigen 2-expressing glial cells (NG2 glia) serve as oligodendrocyte progenitors during development and adulthood. However, recent studies have shown that these cells represent not only a transitional stage along the oligodendroglial lineage, but also constitute a specific cell type endowed with typical properties and functions. Namely, NG2 glia (or subsets of NG2 glia) establish physical and functional interactions with neurons and other central nervous system (CNS) cell types, that allow them to constantly monitor the surrounding neuropil. In addition to operating as sensors, NG2 glia have features that are expected for active modulators of neuronal activity, including the expression and release of a battery of neuromodulatory and neuroprotective factors. Consistently, cell ablation strategies targeting NG2 glia demonstrate that, beyond their role in myelination, these cells contribute to CNS homeostasis and development. In this review, we summarize and discuss the advancements achieved over recent years toward the understanding of such functions, and propose novel approaches for further investigations aimed at elucidating the multifaceted roles of NG2 glia.

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The Neuroprotective Functions of Transforming Growth Factor Beta Proteins

Cited by 210 publications

References 217 publications

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

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NG2 Glia: Novel Roles beyond Re-/Myelination

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