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Sökning: onr:"swepub:oai:DiVA.org:kth-305130" > Urine-Derived Stem ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00006382naa a2200577 4500
001oai:DiVA.org:kth-305130
003SwePub
008211122s2021 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3051302 URI
0247 a https://doi.org/10.3389/fphys.2021.7164712 DOI
040 a (SwePub)kth
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Falzarano, Maria Sofiau Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.4 aut
2451 0a Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
264 1b FRONTIERS MEDIA SA,c 2021
338 a print2 rdacarrier
500 a QC 20211122
520 a Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathological mechanisms underlying NMDs and to eventually identify new potential drugs paving the way for personalized medicine, limitations regarding the availability of neuromuscular disease-related biological samples, rarely accessible from patients, are a major challenge. & nbsp; Aim: We characterized urinary stem cells (USCs) by in-depth transcriptome and protein profiling to evaluate whether this easily accessible source of patient-derived cells is suitable to study neuromuscular genetic diseases, focusing especially on those currently involved in clinical trials. & nbsp; Methods: The global transcriptomics of either native or MyoD transformed USCs obtained from control individuals was performed by RNA-seq. The expression of 610 genes belonging to 16 groups of disorders () whose mutations cause neuromuscular diseases, was investigated on the RNA-seq output. In addition, protein expression of 11 genes related to NMDs including COL6A, EMD, LMNA, SMN, UBA1, DYNC1H1, SOD1, C9orf72, DYSF, DAG1, and HTT was analyzed in native USCs by immunofluorescence and/or Western blot (WB). & nbsp; Results: RNA-seq profile of control USCs shows that 571 out of 610 genes known to be involved in NMDs, are expressed in USCs. Interestingly, the expression levels of the majority of NMD genes remain unmodified following USCs MyoD transformation. Most genes involved in the pathogenesis of all 16 groups of NMDs are well represented except for channelopathies and malignant hyperthermia related genes. All tested proteins showed high expression values, suggesting consistency between transcription and protein representation in USCs. & nbsp; Conclusion: Our data suggest that USCs are human cells, obtainable by non-invasive means, which might be used as a patient-specific cell model to study neuromuscular disease-causing genes and that they can be likely adopted for a variety of in vitro functional studies such as mutation characterization, pathway identification, and drug screening.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
653 a neuromuscular disorders
653 a neurodegenerative disorders
653 a urine derived stem cells
653 a RNA-seq
653 a western blot (WB)
653 a immunofluorescence
7001 a Rossi, Racheleu Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.4 aut
7001 a Grilli, Andreau Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy.4 aut
7001 a Fang, Mingyanu Beijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China.4 aut
7001 a Osman, Hanau Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;Univ Khartoum, Fac Med Lab Sci, Dept Med Microbiol, Khartoum, Sudan.4 aut
7001 a Sabatelli, Patriziau CNR Inst Mol Genet Luigi Luca Cavalli Sforza, Unit Bologna, Bologna, Italy.;Ist Ortoped Rizzoli, Ist Ricovero & Cura Carattere Sci IRCCS, Bologna, Italy.4 aut
7001 a Antoniel, Manuelau CNR Inst Mol Genet Luigi Luca Cavalli Sforza, Unit Bologna, Bologna, Italy.;Ist Ortoped Rizzoli, Ist Ricovero & Cura Carattere Sci IRCCS, Bologna, Italy.4 aut
7001 a Lu, Zhiyuanu Beijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China.4 aut
7001 a Li, Wenyanu Beijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China.4 aut
7001 a Selvatici, Ritau Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.4 aut
7001 a Al-Khalili Szigyarto, Cristinau KTH,Proteinvetenskap,Dept Prote, Stockholm, Sweden.4 aut0 (Swepub:kth)u1c02mh9
7001 a Gualandi, Francescau Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.4 aut
7001 a Bicciato, Silviou Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy.4 aut
7001 a Torelli, Silviau UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.;UCL, Natl Inst Hlth Res, Great Ormond St Inst Child Hlth, Biomed Res Ctr, London, England.4 aut
7001 a Ferlini, Alessandrau Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.4 aut
7102 a Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.b Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.4 org
7730 t Frontiers in Physiologyd : FRONTIERS MEDIA SAg 12q 12x 1664-042X
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-305130
8564 8u https://doi.org/10.3389/fphys.2021.716471

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