Unraveling Mechanisms of Patient-Specific NRXN1 Mutations in Neuropsychiatric Diseases Using Human Induced Pluripotent Stem Cells.

Abstract:

:Rare heterozygous deletions in the neurexin 1 (NRXN1) gene robustly increase an individual's risk of developing neurological and psychiatric disorders. However, the molecular bases by which different mutations result in different clinical presentations, with variable penetrance, are unknown. To better understand the molecular and cellular consequences of heterozygous NRXN1 mutations, Flaherty and colleagues studied how patient mutations influence the NRXN1 isoform repertoire and neuronal phenotypes using induced pluripotent stem (iPS) cells. Advancing from disease association to mechanistic insights, the authors provide insight into how patient mutations might impinge on neuronal function. This research highlights the value of iPS cells for elucidating otherwise elusive links between molecular and neuronal function. In addition, they provide further evidence of the importance of alternative splicing in the pathophysiology of neuropsychiatric diseases.

journal_name

Stem Cells Dev

authors

De Los Angeles A,Tunbridge EM

doi

10.1089/scd.2020.0017

subject

Has Abstract

pub_date

2020-09-01 00:00:00

pages

1142-1144

issue

17

eissn

1547-3287

issn

1557-8534

journal_volume

29

pub_type

杂志文章
  • Mesenchymal Stromal Cell-Like Cells Set the Balance of Stimulatory and Inhibitory Signals in Monocyte-Derived Dendritic Cells.

    abstract::The major reservoir of human multipotent mesenchymal stem/stromal cells (MSCs) is the bone marrow (BM) with the capability to control hematopoietic stem cell development. The regenerative potential of MSCs is associated with enhanced endogenous repair and healing mechanisms that modulate inflammatory responses. Our pr...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2014.0509

    authors: Bacskai I,Mázló A,Kis-Tóth K,Szabó A,Panyi G,Sarkadi B,Apáti Á,Rajnavölgyi É

    更新日期:2015-08-01 00:00:00

  • Induction of Mouse Peritoneum Mesenchymal Stem Cells into Germ Cell-Like Cells Using Follicular Fluid and Cumulus Cells-Conditioned Media.

    abstract::The peritoneum mesothelium lines body cavities and has the same origin as ovarian surface epithelium with probable existence of peritoneum mesenchymal stem cells (PMSCs). In the present research, PMSCs were isolated from peritoneum and differentiated into ovarian cell-like cells using human follicular fluid (HFF) and ...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2018.0149

    authors: Mirzaeian L,Eftekhari-Yazdi P,Esfandiari F,Eivazkhani F,Rezazadeh Valojerdi M,Moini A,Fathi R

    更新日期:2019-04-15 00:00:00

  • Resveratrol promotes osteogenic differentiation and protects against dexamethasone damage in murine induced pluripotent stem cells.

    abstract::Resveratrol is a natural polyphenol antioxidant that has been shown to facilitate osteogenic differentiation. A recent breakthrough has demonstrated that ectopic expression of four genes is sufficient to reprogram murine and human fibroblasts into induced pluripotent stem (iPS) cells. However, the roles of resveratrol...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2009.0186

    authors: Kao CL,Tai LK,Chiou SH,Chen YJ,Lee KH,Chou SJ,Chang YL,Chang CM,Chen SJ,Ku HH,Li HY

    更新日期:2010-02-01 00:00:00

  • Analysis of CD14 expression levels in putative mesenchymal progenitor cells isolated from equine bone marrow.

    abstract::A long-term goal of mesenchymal progenitor cell (MPC) research is to identify cell-surface markers to facilitate MPC isolation. One reported MPC feature in humans and other species is lack of CD14 (lipopolysaccharide receptor) expression. The aim of this study was to evaluate CD14 as an MPC sorting marker. Our hypothe...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2010.0175

    authors: Hackett CH,Flaminio MJ,Fortier LA

    更新日期:2011-04-01 00:00:00

  • Defining the diversity of phenotypic respecification using multiple cell lines and reprogramming regimens.

    abstract::To better understand the basis of variation in cellular reprogramming, we performed experiments with two primary objectives: first, to determine the degree of difference, if any, in reprogramming efficiency among cells lines of a similar type after accounting for technical variables, and second, to compare the efficie...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2013.0040

    authors: Alicea B,Murthy S,Keaton SA,Cobbett P,Cibelli JB,Suhr ST

    更新日期:2013-10-01 00:00:00

  • Late Rescue Therapy with Cord-Derived Mesenchymal Stromal Cells for Established Lung Injury in Experimental Bronchopulmonary Dysplasia.

    abstract::Bronchopulmonary dysplasia (BPD), the main complication of extreme prematurity, has lifelong consequences for lung health. Mesenchymal stromal cells (MSCs) prevent lung injury in experimental BPD in newborn rodents when given in the immediate neonatal period. Whether MSC therapy can restore normal lung growth after es...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2019.0116

    authors: O'Reilly M,Möbius MA,Vadivel A,Ionescu L,Fung M,Eaton F,Greer JJ,Thébaud B

    更新日期:2020-03-15 00:00:00

  • Growth factor preconditioning increases the function of diabetes-impaired mesenchymal stem cells.

    abstract::Bone marrow-derived mesenchymal stem cells (MSCs) possess multilineage differentiation potential and can be used for the treatment of diabetic heart failure. However, hyperglycemia can affect the function of MSCs adversely and merits the requirement for a strategy to correct this anomaly. MSCs were isolated from the t...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2009.0397

    authors: Khan M,Akhtar S,Mohsin S,N Khan S,Riazuddin S

    更新日期:2011-01-01 00:00:00

  • Long-term maintenance of undifferentiated human embryonic and induced pluripotent stem cells in suspension.

    abstract::Traditionally, undifferentiated pluripotent human embryonic and induced pluripotent stem cells (hESCs and hiPSCs) have been expanded as monolayer colonies in adhesion culture, both in the presence or absence of feeder cells. However, the use of pluripotent stem cells poses the need to scale-up current culture methods....

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2010.0517

    authors: Larijani MR,Seifinejad A,Pournasr B,Hajihoseini V,Hassani SN,Totonchi M,Yousefi M,Shamsi F,Salekdeh GH,Baharvand H

    更新日期:2011-11-01 00:00:00

  • HOXA4 induces expansion of hematopoietic stem cells in vitro and confers enhancement of pro-B-cells in vivo.

    abstract::Members of the homeobox (Hox) gene family are known to mediate expansion of hematopoietic stem cells (HSCs) and progenitors. The absence of oncogenic properties promoted HOXB4 as prime candidate in the quest to expand HSCs for clinical purposes. Despite its potential to expand HSCs, studies with mutant mice showed tha...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2011.0259

    authors: Fournier M,Lebert-Ghali CÉ,Krosl G,Bijl JJ

    更新日期:2012-01-01 00:00:00

  • MicroRNA-193 pro-proliferation effects for bone mesenchymal stem cells after low-level laser irradiation treatment through inhibitor of growth family, member 5.

    abstract::The enhanced proliferation of mesenchymal stem cells (MSCs) can be helpful for the clinical translation of cell therapy. Low-level laser irradiation (LLLI) has been demonstrated as regulating MSC proliferation. MicroRNAs (miRNAs) are involved in various pathophysiologic processes in stem cells, but the role of miRNAs ...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2011.0695

    authors: Wang J,Huang W,Wu Y,Hou J,Nie Y,Gu H,Li J,Hu S,Zhang H

    更新日期:2012-09-01 00:00:00

  • Sca1+Lin-CD117- Mouse Bone Marrow-Derived Mesenchymal Stem Cells Regulate Immature Dendritic Cell Maturation by Inhibiting TLR4-IRF8 Signaling Via the Notch-RBP-J Pathway.

    abstract::Mesenchymal stem cells (MSCs) have a superior immunomodulatory capacity compared to other cells of the immune system, and they hold great promise for treating various immune disorders. However, their regulatory effects on the maturation of immature dendritic cells (imDCs) are not fully understood. In this study, we sh...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2017.0235

    authors: Liu X,Ren S,Ge C,Cheng K,Li X,Zhao RC

    更新日期:2018-04-15 00:00:00

  • Attitudes to Stem Cell Therapy Among Ischemic Stroke Survivors in the Lund Stroke Recovery Study.

    abstract::Preclinical studies suggest that stem cell therapy (SCT) may improve poststroke recovery, and clinical trials investigating safety are ongoing. However, knowledge about patients' attitudes to SCT in stroke is limited. We evaluated the knowledge and attitudes to this therapeutic approach as well as possible factors inf...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2016.0343

    authors: Aked J,Delavaran H,Lindvall O,Norrving B,Kokaia Z,Lindgren A

    更新日期:2017-04-15 00:00:00

  • Role of transforming growth factor-activated kinase-1 on tumor necrosis factor-α actions in human adipose tissue-derived stromal cells.

    abstract::Tumor necrosis factor-α (TNF-α) has multiple effects on proliferation and differentiation of human mesenchymal stem cells. Transforming growth factor-activated kinase-1 (TAK1) mediates the activation of nuclear factor-kappa B (NF-κB), c-Jun N-terminal kinase (JNK), and p38 pathways in response to TNF-α. However, the r...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2014.0272

    authors: Lee SY,Lee JH,Shin KK,Kim DS,Kim YS,Bae YC,Jung JS

    更新日期:2015-04-01 00:00:00

  • Extracellular Vesicles Suppress Basal and Lipopolysaccharide-Induced NFκB Activity in Human Periodontal Ligament Stem Cells.

    abstract::Periodontitis is an infectious disease characterized by chronic inflammation and progressive destruction of periodontal tissues. Chronic inflammatory environment may affect immunomodulatory function of periodontal ligament stem cells (PDLSCs) and promote shift toward proinflammatory phenotype contributing to propagati...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2019.0021

    authors: Čebatariūnienė A,Kriaučiūnaitė K,Prunskaitė J,Tunaitis V,Pivoriūnas A

    更新日期:2019-08-01 00:00:00

  • Expression of Pluripotency Markers in Nonpluripotent Human Neural Stem and Progenitor Cells.

    abstract::Nonpluripotent neural progenitor cells (NPCs) derived from the human fetal central nervous system were found to express a number of messenger RNA (mRNA) species associated with pluripotency, such as NANOG, REX1, and OCT4. The expression was restricted to small subpopulations of NPCs. In contrast to pluripotent stem ce...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2016.0346

    authors: Vincent PH,Benedikz E,Uhlén P,Hovatta O,Sundström E

    更新日期:2017-06-15 00:00:00

  • Nonstimulated human uncommitted mesenchymal stem cells express cell markers of mesenchymal and neural lineages.

    abstract::Ex vivo cultures of human bone marrow-derived mesenchymal stem cells (MSCs) contain subsets of progenitors exhibiting dissimilar properties. One of these subsets comprises uncommitted progenitors displaying distinctive features, such as morphology, a quiescent condition, growth factor production, and restricted tissue...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2005.14.408

    authors: Minguell JJ,Fierro FA,Epuñan MJ,Erices AA,Sierralta WD

    更新日期:2005-08-01 00:00:00

  • Heterogeneous mixed-lineage differentiation of mouse embryonic stem cells induced by conditioned media from a549 cells.

    abstract::Conditioned media (CM) of transformed cells, such as the human lung-derived A549 cells, is a useful tool for directing differentiation of embryonic stem cells (ESCs). Previous work indicates that A549-CM induced pulmonary differentiation of mouse ESCs (mESCs). In this study, we compared the effects of A549-CM treatmen...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2014.0042

    authors: Lecht S,Gerstenhaber JA,Stabler CT,Pimton P,Karamil S,Marcinkiewicz C,Schulman ES,Lelkes PI

    更新日期:2014-08-15 00:00:00

  • Aryl hydrocarbon receptor-null allele mice have hematopoietic stem/progenitor cells with abnormal characteristics and functions.

    abstract::The aryl hydrocarbon receptor (AhR) belongs to the basic helix-loop-helix family of DNA-binding proteins that play a role in the toxicity and carcinogenicity of certain chemicals. The most potent ligand of the AhR known is 2,3,7,8-tetracholorodibenzo-p-dioxin. We previously reported tetrachlorodibenzo-p-dioxin-induced...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2010.0333

    authors: Singh KP,Garrett RW,Casado FL,Gasiewicz TA

    更新日期:2011-05-01 00:00:00

  • Postnatal Pancreas of Mice Contains Tripotent Progenitors Capable of Giving Rise to Duct, Acinar, and Endocrine Cells In Vitro.

    abstract::Postnatal pancreas is a potential source for progenitor cells to generate endocrine β-cells for treating type 1 diabetes. However, it remains unclear whether young (1-week-old) pancreas harbors multipotent progenitors capable of differentiating into duct, acinar, and endocrine cells. Laminin is an extracellular matrix...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2015.0007

    authors: Ghazalli N,Mahdavi A,Feng T,Jin L,Kozlowski MT,Hsu J,Riggs AD,Tirrell DA,Ku HT

    更新日期:2015-09-01 00:00:00

  • Role of Fibroblast Growth Factor-5 on the Proliferation of Human Tonsil-Derived Mesenchymal Stem Cells.

    abstract::Human mesenchymal stem cells (MSCs) are a promising tool for therapeutic applications in cell-based therapy and regenerative medicine, and MSCs from the human palatine tonsils have recently been used as a new tissue source. However, the understanding of the proliferation and differentiation capacity of tonsil-derived ...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2016.0061

    authors: Park GC,Song JS,Park HY,Shin SC,Jang JY,Lee JC,Wang SG,Lee BJ,Jung JS

    更新日期:2016-08-01 00:00:00

  • Depsipeptide (FK228) preferentially induces apoptosis in BCR/ABL-expressing cell lines and cells from patients with chronic myelogenous leukemia in blast crisis.

    abstract::Resistance to imatinib can occur in patients with chronic myelogenous leukemia (CML). In this study, we report mechanisms of action of histone deacetylase (HDAC) inhibitor, depsipeptide (FK228) in BCR/ABL-expressing cell lines and its effectiveness in imatinib-resistant cells from patients with blast crisis of CML. FK...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2007.9994

    authors: Okabe S,Tauchi T,Nakajima A,Sashida G,Gotoh A,Broxmeyer HE,Ohyashiki JH,Ohyashiki K

    更新日期:2007-06-01 00:00:00

  • The SOX transcription factors as key players in pluripotent stem cells.

    abstract::Pluripotent stem cells (PSCs), including embryonic stem cells (ESCs), and induced PSCs (iPSCs) are able to self-renew and differentiate into a multitude of specialized cellular lineages. In these cells, the pluripotential identity is maintained by a group of transcription factors (TFs). Among these factors, SOX TFs pl...

    journal_title:Stem cells and development

    pub_type: 杂志文章,评审

    doi:10.1089/scd.2014.0297

    authors: Abdelalim EM,Emara MM,Kolatkar PR

    更新日期:2014-11-15 00:00:00

  • Zfhx1b induces a definitive neural stem cell fate in mouse embryonic stem cells.

    abstract::Inducing a stable and predictable program of neural cell fate in pluripotent cells in vitro is an important goal for utilizing these cells for modeling human disease mechanisms. However, the extent to which in vitro neural specification recapitulates in vivo neural specification remains to be fully established. We pre...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2011.0593

    authors: Dang LT,Wong L,Tropepe V

    更新日期:2012-10-10 00:00:00

  • The European Court of Human Rights' ruling on unproven stem cell therapies: a missed opportunity?

    abstract::On May 6th 2014, the European Court of Human Rights added yet a new element to the judicial history of stem cells as it ruled in Durisotto v. Italy [appeal n. 62804/13]. The ruling rejected a patient claim to access an unproven cell therapy-an outcome that is certainly to be welcomed. However, this ruling is a missed ...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2014.0361

    authors: Rial-Sebbag E,Blasimme A

    更新日期:2014-12-01 00:00:00

  • The role of SOX9 transcription factor in pancreatic and duodenal development.

    abstract::Progenitor expansion during development is a highly regulated process dictating the final organ size, while expansion of specific progenitor populators can adjust the final cellular composition of the organ. Understanding factors involved in these pathways is required to develop cell-based therapies such as β-cell tra...

    journal_title:Stem cells and development

    pub_type: 杂志文章,评审

    doi:10.1089/scd.2013.0106

    authors: Belo J,Krishnamurthy M,Oakie A,Wang R

    更新日期:2013-11-15 00:00:00

  • Stimulating the neurotrophic and angiogenic properties of human adipose-derived stem cells enhances nerve repair.

    abstract::In future, adipose-derived stem cells (ASC) might be used to treat neurological disorders. In this study, the neurotrophic and angiogenic properties of human ASC were evaluated, and their effects in a peripheral nerve injury model were determined. In vitro growth factor stimulation of the cells resulted in increased s...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2013.0396

    authors: Kingham PJ,Kolar MK,Novikova LN,Novikov LN,Wiberg M

    更新日期:2014-04-01 00:00:00

  • Origins of gliogenic stem cell populations within adult skin and bone marrow.

    abstract::The generation of Schwann cells from precursors within adult skin and bone marrow is of significant clinical interest because of the opportunities for disease modelling and strategies for remyelination. Recent evidence has suggested that glial cells can be generated from (i) mesenchymal stem cells (MSCs) within adult ...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2009.0371

    authors: Hunt DP,Sajic M,Phillips H,Henderson D,Compston A,Smith K,Chandran S

    更新日期:2010-07-01 00:00:00

  • Successful periodontal ligament regeneration by periodontal progenitor preseeding on natural tooth root surfaces.

    abstract::The regeneration of lost periodontal ligament (PDL) and alveolar bone is the purpose of periodontal tissue engineering. The goal of the present study was to assess the suitability of 3 odontogenic progenitor populations from dental pulp, PDL, and dental follicle for periodontal regeneration when exposed to natural and...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2010.0431

    authors: Dangaria SJ,Ito Y,Luan X,Diekwisch TG

    更新日期:2011-10-01 00:00:00

  • LPS-stimulated inflammatory environment inhibits BMP-2-induced osteoblastic differentiation through crosstalk between TLR4/MyD88/NF-κB and BMP/Smad signaling.

    abstract::Bone morphogenetic protein-2 (BMP-2) is a novel differentiation factor that is capable of inducing osteoblast differentiation and bone formation, making it an attractive option in treatment of bone defects, fractures, and spine fusions. Inflammation, which was a common situation during bone healing, is recognized to i...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2013.0345

    authors: Huang RL,Yuan Y,Zou GM,Liu G,Tu J,Li Q

    更新日期:2014-02-01 00:00:00

  • Suppressor of Fused Plays an Important Role in Regulating Mesodermal Differentiation of Murine Embryonic Stem Cells In Vivo.

    abstract::The hedgehog (Hh) signaling pathway plays fundamental roles during embryonic development and tumorigenesis. Previously, we have shown that ablation of the tumor suppressor and negative regulator, Suppressor of fused (Sufu), within this pathway causes embryonic lethality around E9.5 in the mouse. In this study, we exam...

    journal_title:Stem cells and development

    pub_type: 杂志文章

    doi:10.1089/scd.2015.0050

    authors: Hoelzl MA,Heby-Henricson K,Bilousova G,Rozell B,Kuiper RV,Kasper M,Toftgård R,Teglund S

    更新日期:2015-11-01 00:00:00