Cell and Tissue Research最新文献_第6页

Involvement of ANO1 currents in pacemaking of PDGFRα-positive specialised smooth muscle cells in rat caudal epididymis ANO1 电流参与了大鼠尾侧附睾 PDGFRα 阳性特化平滑肌细胞的起搏过程

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-08 DOI: 10.1007/s00441-024-03890-x

Wataru Kudo, Retsu Mitsui, Hikaru Hashitani

{"title":"Involvement of ANO1 currents in pacemaking of PDGFRα-positive specialised smooth muscle cells in rat caudal epididymis","authors":"Wataru Kudo, Retsu Mitsui, Hikaru Hashitani","doi":"10.1007/s00441-024-03890-x","DOIUrl":"https://doi.org/10.1007/s00441-024-03890-x","url":null,"abstract":"The epididymal duct exhibits spontaneous phasic contractions (SPCs) to store and transport sperm. Here, we explored molecular identification of pacemaker cells driving SPCs in the caudal epididymal duct and also investigated properties of pacemaker currents underlying SPCs focusing on ANO1 Ca2+-activated Cl− channels (CaCCs). Immunohistochemistry was performed to visualise the distribution of platelet-derived growth factor receptor α (PDGFRα)- or ANO1-positive cells in the rat caudal epididymal duct. Perforated whole-cell patch clamp technique was applied to enzymatically isolated epididymal cells, while SPCs were recorded with video edge-tracking technique. Immunohistochemistry revealed the distribution of α-smooth muscle actin (α-SMA)-positive cells co-expressing both PDGFRα and ANO1 in the innermost smooth muscle layer. Approximately one-third of isolated epididymis cells exhibited spontaneous transient inward currents (STICs) at the holding potential −60 mV. The reversal potential for STICs was close to the calculated chloride equivalent potential depending on intracellular Cl− concentrations. Ani9 (3 µM), the ANO1 specific inhibitor, decreased both amplitude and frequency of STICs, while cyclopiazonic acid (CPA, 30 µM), a sarco-/endoplasmic reticulum Ca2+-ATPase (SERCA) inhibitor, abolished STICs. Ani9 (3 or 10 µM) reduced the frequency of SPCs without changing their amplitude. Thus, PDGFRα+, ANO1+ specialised smooth muscle cells (SMCs) appear to function as pacemaker cells to electrically drive epididymal SPCs by generating ANO1-dependnet STICs. STICs arising from spontaneous Ca2+ release from intracellular Ca2+ store and subsequent opening of ANO1 result in depolarisations that spread into adjacent SMCs where L-type voltage-dependent Ca2+ channels are activated to develop SPCs.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140568159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to: Induction of forkhead box M1 (FoxM1) by EGF through ERK signaling pathway promotes trophoblast cell invasion 更正为EGF通过ERK信号通路诱导叉头盒M1（FoxM1）促进滋养层细胞侵袭

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-05 DOI: 10.1007/s00441-024-03889-4

Yunpeng Xie, Dan Cui, Linlin Sui, Yuefei Xu, Ningning Zhang, Yanni Ma, Yinghua Li, Ying Kong

引用次数: 0

Dynamic changes in endoplasmic reticulum morphology and its contact with the plasma membrane in motor neurons in response to nerve injury. 运动神经元内质网形态及其与质膜接触的动态变化对神经损伤的反应

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-05 DOI: 10.1007/s00441-024-03858-x

Mahmoud Elgendy, Hiromi Tamada, Takaya Taira, Yuma Iio, Akinobu Kawamura, Ayusa Kunogi, Yuka Mizutani, Hiroshi Kiyama

{"title":"Dynamic changes in endoplasmic reticulum morphology and its contact with the plasma membrane in motor neurons in response to nerve injury.","authors":"Mahmoud Elgendy, Hiromi Tamada, Takaya Taira, Yuma Iio, Akinobu Kawamura, Ayusa Kunogi, Yuka Mizutani, Hiroshi Kiyama","doi":"10.1007/s00441-024-03858-x","DOIUrl":"10.1007/s00441-024-03858-x","url":null,"abstract":"The endoplasmic reticulum (ER) extends throughout a cell and plays a critical role in maintaining cellular homeostasis. Changes in ER shape could provide a clue to explore the mechanisms that underlie the fate determination of neurons after axon injury because the ER drastically changes its morphology under neuronal stress to maintain cellular homeostasis and recover from damage. Because of their tiny structures and richness in the soma, the detailed morphology of the ER and its dynamics have not been well analysed. In this study, the focused ion beam/scanning electron microscopy (FIB/SEM) analysis was performed to explore the ultra-structures of the ER in the somata of motor neuron with axon regenerative injury models. In normal motor neurons, ER in the somata is abundantly localised near the perinucleus and represents lamella-like structures. After injury, analysis of the ER volume and ER branching points indicated a collapse of the normal distribution and a transformation from lamella-like structures to mesh-like structures. Furthermore, accompanied by ER accumulation near the plasma membrane (PM), the contact between the ER and PM (ER-PM contacts) significantly increased after injury. The accumulation of extended-synaptotagmin 1 (E-Syt1), a tethering protein of the ER and PM that regulates Ca2+-dependent lipid transfer, was also identified by immunohistochemistry and quantitative Real-time PCR after injury. These morphological alterations of ER and the increase in ER-PM contacts may be crucial events that occur in motor neurons as a resilient response for the survival after axonal injury.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139680723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Calcium imaging of adult olfactory epithelium reveals amines as important odor class in fish. 成鱼嗅上皮细胞的钙成像显示胺是鱼类的重要气味类别。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-13 DOI: 10.1007/s00441-024-03859-w

M Dieris, D Kowatschew, T Hassenklöver, I Manzini, S I Korsching

{"title":"Calcium imaging of adult olfactory epithelium reveals amines as important odor class in fish.","authors":"M Dieris, D Kowatschew, T Hassenklöver, I Manzini, S I Korsching","doi":"10.1007/s00441-024-03859-w","DOIUrl":"10.1007/s00441-024-03859-w","url":null,"abstract":"The odor space of aquatic organisms is by necessity quite different from that of air-breathing animals. The recognized odor classes in teleost fish include amino acids, bile acids, reproductive hormones, nucleotides, and a limited number of polyamines. Conversely, a significant portion of the fish olfactory receptor repertoire is composed of trace amine-associated receptors, generally assumed to be responsible for detecting amines. Zebrafish possess over one hundred of these receptors, but the responses of olfactory sensory neurons to amines have not been known so far. Here we examined odor responses of zebrafish olfactory epithelial explants at the cellular level, employing calcium imaging. We report that amines elicit strong responses in olfactory sensory neurons, with a time course characteristically different from that of ATP-responsive (basal) cells. A quantitative analysis of the laminar height distribution shows amine-responsive cells undistinguishable from ciliated neurons positive for olfactory marker protein. This distribution is significantly different from those measured for microvillous neurons positive for transient receptor potential channel 2 and basal cells positive for proliferating cell nuclear antigen. Our results suggest amines as an important odor class for teleost fish.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Electron microscopic analysis of the influence of iPSC-derived motor neurons on bioengineered human skeletal muscle tissues. 电子显微镜分析 iPSC 衍生运动神经元对生物工程人体骨骼肌组织的影响。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-08 DOI: 10.1007/s00441-024-03864-z

Christine T Nguyen, Carolina Chávez-Madero, Erik Jacques, Brennen Musgrave, Ting Yin, Kejzi Saraci, Penney M Gilbert, Bryan A Stewart

{"title":"Electron microscopic analysis of the influence of iPSC-derived motor neurons on bioengineered human skeletal muscle tissues.","authors":"Christine T Nguyen, Carolina Chávez-Madero, Erik Jacques, Brennen Musgrave, Ting Yin, Kejzi Saraci, Penney M Gilbert, Bryan A Stewart","doi":"10.1007/s00441-024-03864-z","DOIUrl":"10.1007/s00441-024-03864-z","url":null,"abstract":"3D bioengineered skeletal muscle macrotissues are increasingly important for studies of cell biology and development of therapeutics. Tissues derived from immortalized cells obtained from patient samples, or from pluripotent stem cells, can be co-cultured with motor-neurons to create models of human neuromuscular junctions in culture. In this study, we present foundational work on 3D cultured muscle ultrastructure, with and without motor neurons, which is enabled by the development of a new co-culture platform. Our results show that tissues from Duchenne muscular dystrophy patients are poorly organized compared to tissues grown from healthy donor and that the presence of motor neurons invariably improves sarcomere organization. Electron micrographs show that in the presence of motor neurons, filament directionality, banding patterns, z-disc continuity, and the appearance of presumptive SSR and T-tubule profiles all improve in healthy, DMD-, and iPSC-derived muscle tissue. Further work to identify the underlying defects of DMD tissue disorganization and the mechanisms by which motor neurons support muscle are likely to yield potential new therapeutic approaches for treating patients suffering from Duchenne muscular dystrophy.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139701972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The application and development of electron microscopy for three-dimensional reconstruction in life science: a review. 电子显微镜在生命科学三维重建中的应用和发展：综述。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-28 DOI: 10.1007/s00441-024-03878-7

Jingjing Zhao, Xiaoping Yu, Xuping Shentu, Danting Li

{"title":"The application and development of electron microscopy for three-dimensional reconstruction in life science: a review.","authors":"Jingjing Zhao, Xiaoping Yu, Xuping Shentu, Danting Li","doi":"10.1007/s00441-024-03878-7","DOIUrl":"10.1007/s00441-024-03878-7","url":null,"abstract":"Imaging technologies have played a pivotal role in advancing biological research by enabling visualization of biological structures and processes. While traditional electron microscopy (EM) produces two-dimensional images, emerging techniques now allow high-resolution three-dimensional (3D) characterization of specimens in situ, meeting growing needs in molecular and cellular biology. Combining transmission electron microscopy (TEM) with serial sectioning inaugurated 3D imaging, attracting biologists seeking to explore cell ultrastructure and driving advancement of 3D EM reconstruction. By comprehensively and precisely rendering internal structure and distribution, 3D TEM reconstruction provides unparalleled ultrastructural insights into cells and molecules, holding tremendous value for elucidating structure-function relationships and broadly propelling structural biology. Here, we first introduce the principle of 3D reconstruction of cells and tissues by classical approaches in TEM and then discuss modern technologies utilizing TEM and on new SEM-based as well as cryo-electron microscope (cryo-EM) techniques. 3D reconstruction techniques from serial sections, electron tomography (ET), and the recent single-particle analysis (SPA) are examined; the focused ion beam scanning electron microscopy (FIB-SEM), the serial block-face scanning electron microscopy (SBF-SEM), and automatic tape-collecting lathe ultramicrotome (ATUM-SEM) for 3D reconstruction of large volumes are discussed. Finally, we review the challenges and development prospects of these technologies in life science. It aims to provide an informative reference for biological researchers.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative transcriptomic and phenotypic analysis of induced pluripotent stem cell hepatocyte-like cells and primary human hepatocytes. 诱导多能干细胞肝细胞样细胞与原代人类肝细胞的转录组和表型比较分析。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-19 DOI: 10.1007/s00441-024-03868-9

Neeti Gandhi, Lauren Wills, Kyle Akers, Yiqi Su, Parker Niccum, T M Murali, Padmavathy Rajagopalan

{"title":"Comparative transcriptomic and phenotypic analysis of induced pluripotent stem cell hepatocyte-like cells and primary human hepatocytes.","authors":"Neeti Gandhi, Lauren Wills, Kyle Akers, Yiqi Su, Parker Niccum, T M Murali, Padmavathy Rajagopalan","doi":"10.1007/s00441-024-03868-9","DOIUrl":"10.1007/s00441-024-03868-9","url":null,"abstract":"Primary human hepatocytes (PHHs) are used extensively for in vitro liver cultures to study hepatic functions. However, limited availability and invasive retrieval prevent their widespread use. Induced pluripotent stem cells exhibit significant potential since they can be obtained non-invasively and differentiated into hepatic lineages, such as hepatocyte-like cells (iHLCs). However, there are concerns about their fetal phenotypic characteristics and their hepatic functions compared to PHHs in culture. Therefore, we performed an RNA-sequencing (RNA-seq) analysis to understand pathways that are either up- or downregulated in each cell type. Analysis of the RNA-seq data showed an upregulation in the bile secretion pathway where genes such as AQP9 and UGT1A1 were higher expressed in PHHs compared to iHLCs by 455- and 15-fold, respectively. Upon immunostaining, bile canaliculi were shown to be present in PHHs. The TCA cycle in PHHs was upregulated compared to iHLCs. Cellular analysis showed a 2-2.5-fold increase in normalized urea production in PHHs compared to iHLCs. In addition, drug metabolism pathways, including cytochrome P450 (CYP450) and UDP-glucuronosyltransferase enzymes, were upregulated in PHHs compared to iHLCs. Of note, CYP2E1 gene expression was significantly higher (21,810-fold) in PHHs. Acetaminophen and ethanol were administered to PHH and iHLC cultures to investigate differences in biotransformation. CYP450 activity of baseline and toxicant-treated samples was significantly higher in PHHs compared to iHLCs. Our analysis revealed that iHLCs have substantial differences from PHHs in critical hepatic functions. These results have highlighted the differences in gene expression and hepatic functions between PHHs and iHLCs to motivate future investigation.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anatomical changes of Tenebrio molitor and Tribolium castaneum during complete metamorphosis. Tenebrio molitor 和 Tribolium castaneum 在完全变态过程中的解剖变化。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-27 DOI: 10.1007/s00441-024-03877-8

Maria Luigia Vommaro, Sandro Donato, Simone Caputo, Raffaele G Agostino, Aurora Montali, Gianluca Tettamanti, Anita Giglio

{"title":"Anatomical changes of Tenebrio molitor and Tribolium castaneum during complete metamorphosis.","authors":"Maria Luigia Vommaro, Sandro Donato, Simone Caputo, Raffaele G Agostino, Aurora Montali, Gianluca Tettamanti, Anita Giglio","doi":"10.1007/s00441-024-03877-8","DOIUrl":"10.1007/s00441-024-03877-8","url":null,"abstract":"In holometabolous insects, extensive reorganisation of tissues and cells occurs at the pupal stage. The remodelling of the external exoskeleton and internal organs that intervenes during metamorphosis has been traditionally studied in many insect species based on histological or ultrastructural methods. This study demonstrates the use of synchrotron X-ray phase-contrast micro-computed tomography as a powerful, non-destructive tool for in situ morphological observation of anatomical structures at the pupal stage in two Tenebrionid beetles, i.e. Tribolium castaneum and Tenebrio molitor, known as important pests, as well as emerging and promising models in experimental biology. Virtual sections and three-dimensional reconstructions were performed on both males and females at early, intermediate, and late pupal stage. The dataset allowed us to observe the remodelling of the gut and nervous system as well as the shaping of the female and male reproductive system at different pupal ages in both mealworm and red flour beetles. Moreover, we observed that the timing and duration pattern of organ development varied between the species analysed, likely related to the species-specific adaptations of the pre-imaginal stages to environmental conditions, which ultimately affect their life cycle. This research provides new knowledge on the morphological modifications that occur during the pupal stage of holometabolous insects and provides a baseline set of information on beetle metamorphosis that may support future research in forensics, physiology, and ecology as well as an image atlas for educational purposes.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nescient helix-loop-helix 1 (Nhlh1) is a novel activating transcription factor 5 (ATF5) target gene in olfactory and vomeronasal sensory neurons in mice. Nescient helix-loop-helix 1（Nhlh1）是小鼠嗅觉和绒毛感觉神经元中的一种新型激活转录因子 5（ATF5）靶基因。

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-04-01 Epub Date: 2024-02-23 DOI: 10.1007/s00441-024-03871-0

Chiharu Ishii, Haruo Nakano, Riko Higashiseto, Yusaku Ooki, Mariko Umemura, Shigeru Takahashi, Yuji Takahashi

{"title":"Nescient helix-loop-helix 1 (Nhlh1) is a novel activating transcription factor 5 (ATF5) target gene in olfactory and vomeronasal sensory neurons in mice.","authors":"Chiharu Ishii, Haruo Nakano, Riko Higashiseto, Yusaku Ooki, Mariko Umemura, Shigeru Takahashi, Yuji Takahashi","doi":"10.1007/s00441-024-03871-0","DOIUrl":"10.1007/s00441-024-03871-0","url":null,"abstract":"Activating transcription factor 5 (ATF5) is a transcription factor that belongs to the cAMP-response element-binding protein/ATF family and is essential for the differentiation and survival of sensory neurons in mouse olfactory organs. However, transcriptional target genes for ATF5 have yet to be identified. In the present study, chromatin immunoprecipitation-quantitative polymerase chain reaction (ChIP-qPCR) experiments were performed to verify ATF5 target genes in the main olfactory epithelium and vomeronasal organ in the postnatal pups. ChIP-qPCR was conducted using hemagglutinin (HA)-tagged ATF5 knock-in olfactory organs. The results obtained demonstrated that ATF5-HA fusion proteins bound to the CCAAT/enhancer-binding protein-ATF response element (CARE) site in the enhancer region of nescient helix-loop-helix 1 (Nhlh1), a transcription factor expressed in differentiating olfactory and vomeronasal sensory neurons. Nhlh1 mRNA expression was downregulated in ATF5-deficient (ATF5-/-) olfactory organs. The LIM/homeobox protein transcription factor Lhx2 co-localized with ATF5 in the nuclei of olfactory and vomeronasal sensory neurons and bound to the homeodomain site proximal to the CARE site in the Nhlh1 gene. The CARE region of the Nhlh1 gene was enriched by the active enhancer marker, acetyl-histone H3 (Lys27). The present study identified Nhlh1 as a novel target gene for ATF5 in murine olfactory organs. ATF5 may upregulate Nhlh1 expression in concert with Lhx2, thereby promoting the differentiation of olfactory and vomeronasal sensory neurons.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139930231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro 来源于朱伯综合征的诱导多能干细胞在体外显示出神经元分化的改变

IF 3.6 3区生物学

Cell and Tissue Research Pub Date : 2024-03-19 DOI: 10.1007/s00441-024-03876-9

Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente

{"title":"Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro","authors":"Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente","doi":"10.1007/s00441-024-03876-9","DOIUrl":"https://doi.org/10.1007/s00441-024-03876-9","url":null,"abstract":"Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the “molar tooth sign.” Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely present in embryonic and adult tissues. In this paper, we developed an in vitro neuronal differentiation model using patient-derived induced pluripotent stem cells (iPSCs), to evaluate possible neurodevelopmental defects in JS. To this end, iPSCs from four JS patients harboring mutations in distinct JS genes (AHI1, CPLANE1, TMEM67, and CC2D2A) were differentiated alongside healthy control cells to obtain mid-hindbrain precursors and cerebellar granule cells. Differentiation was monitored over 31 days through the detection of lineage-specific marker expression by qRT-PCR, immunofluorescence, and transcriptomics analysis. All JS patient-derived iPSCs, regardless of the mutant gene, showed a similar impairment to differentiate into mid-hindbrain and cerebellar granule cells when compared to healthy controls. In addition, analysis of primary cilium count and morphology showed notable ciliary defects in all differentiating JS patient-derived iPSCs compared to controls. These results confirm that patient-derived iPSCs are an accessible and relevant in vitro model to analyze cellular phenotypes connected to the presence of JS gene mutations in a neuronal context.","PeriodicalId":9712,"journal":{"name":"Cell and Tissue Research","volume":null,"pages":null},"PeriodicalIF":3.6,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140169149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0