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  1. Article ; Online: Correction to: Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.

    Colombo, Eleonora / Poletti, Barbara / Maranzano, Alessio / Peverelli, Silvia / Solca, Federica / Colombrita, Claudia / Torre, Silvia / Tiloca, Cinzia / Verde, Federico / Bonetti, Ruggero / Carelli, Laura / Morelli, Claudia / Ratti, Antonia / Silani, Vincenzo / Ticozzi, Nicola

    Journal of neurology

    2023  Volume 270, Issue 6, Page(s) 3284–3285

    Language English
    Publishing date 2023-03-13
    Publishing country Germany
    Document type Published Erratum
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-11651-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Human motor neurons derived from induced pluripotent stem cells are susceptible to SARS-CoV-2 infection.

    Cappelletti, Gioia / Colombrita, Claudia / Limanaqi, Fiona / Invernizzi, Sabrina / Garziano, Micaela / Vanetti, Claudia / Moscheni, Claudia / Santangelo, Serena / Zecchini, Silvia / Trabattoni, Daria / Silani, Vincenzo / Clerici, Mario / Ratti, Antonia / Biasin, Mara

    Frontiers in cellular neuroscience

    2023  Volume 17, Page(s) 1285836

    Abstract: Introduction: COVID-19 typically causes Q7 respiratory disorders, but a high proportion of patients also reports neurological and neuromuscular symptoms during and after SARSCoV-2 infection. Despite a number of studies documenting SARS-CoV-2 infection ... ...

    Abstract Introduction: COVID-19 typically causes Q7 respiratory disorders, but a high proportion of patients also reports neurological and neuromuscular symptoms during and after SARSCoV-2 infection. Despite a number of studies documenting SARS-CoV-2 infection of various neuronal cell populations, the impact of SARS-CoV-2 exposure on motor neuronal cells specifically has not been investigated so far.
    Methods: Thus, by using human iPSC-derived motor neurons (iPSC-MNs) we assessed: (i) the expression of SARS-CoV-2 main receptors; (ii) iPSC-MN infectability by SARS-CoV-2; and (iii) the effect of SARS-CoV-2 exposure on iPSC-MN transcriptome.
    Results: Gene expression profiling and immunofluorescence (IF) analysis of the main host cell receptors recognized by SARS-CoV-2 revealed that all of them are expressed in iPSC-MNs, with CD147 and NRP1 being the most represented ones. By analyzing SARS-CoV-2 N1 and N2 gene expression over time, we observed that human iPSC-MNs were productively infected by SARS-CoV-2 in the absence of cytopathic effect. Supernatants collected from SARS-CoV-2-infected iPSC-MNs were able to re-infect VeroE6 cells. Image analyses of SARS-CoV-2 nucleocapsid proteins by IF confirmed iPSC-MN infectability. Furthermore, SARS-CoV-2 infection in iPSCMNs significantly altered the expression of genes (IL-6, ANG, S1PR1, BCL2, BAX, Casp8, HLA-A, ERAP1, CD147, MX1) associated with cell survival and metabolism, as well as antiviral and inflammatory response.
    Discussion: These results suggest for the very first time that SARS-CoV-2 can productively infect human iPSC-derived MNs probably by binding CD147 and NRP1 receptors. Such information will be important to unveil the biological bases of neuromuscular disorders characterizing SARS-CoV-2 infection and the so called long-COVID symptoms.
    Language English
    Publishing date 2023-12-05
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452963-1
    ISSN 1662-5102
    ISSN 1662-5102
    DOI 10.3389/fncel.2023.1285836
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Phosphorylated tau in plasma could be a biomarker of lower motor neuron impairment in amyotrophic lateral sclerosis.

    Verde, Federico / Milone, Ilaria / Colombo, Eleonora / Maranzano, Alessio / Dubini, Antonella / Colombrita, Claudia / Gentile, Francesco / Doretti, Alberto / Torre, Silvia / Messina, Stefano / Morelli, Claudia / Torresani, Erminio / Poletti, Barbara / Priori, Alberto / Maderna, Luca / Ratti, Antonia / Silani, Vincenzo / Ticozzi, Nicola

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 10, Page(s) 3697–3702

    Abstract: Introduction: Plasma levels of phosphorylated tau (P-tau181) have been recently reported to be increased in amyotrophic lateral sclerosis (ALS) and associated with lower motor neuron (LMN) impairment.: Patients and methods: We quantified plasma P- ... ...

    Abstract Introduction: Plasma levels of phosphorylated tau (P-tau181) have been recently reported to be increased in amyotrophic lateral sclerosis (ALS) and associated with lower motor neuron (LMN) impairment.
    Patients and methods: We quantified plasma P-tau181 (pP-tau181) in a cohort of 29 deeply phenotyped ALS patients using the new fully automated Lumipulse assay and analysed phenotype-biomarker correlations.
    Results: pP-tau181 levels correlated positively with a clinical LMN score (r = 0.3803) and negatively, albeit not significantly, with a composite index of muscle strength (r =  - 0.3416; p = 0.0811), but not with Penn Upper Motor Neuron (UMN) Score. Accordingly, pP-tau181 correlated with electromyographic indices of spinal active and chronic denervation (r = 0.4507 and r = 0.3864, respectively) but not with transcranial magnetic stimulation parameters of UMN dysfunction. pP-tau181 levels did not correlate with those in the cerebrospinal fluid (CSF), serum NFL, serum GFAP, CSF/serum albumin ratio, or estimated glomerular filtration rate, but correlated with plasma creatine kinase levels (r = 0.4661). Finally, while not being associated with neuropsychological phenotype, pP-tau181 correlated negatively with pH (r =  - 0.5632) and positively with partial pressure of carbon dioxide (PaCO
    Discussion: pP-tau181 has potential as ALS biomarker and could be associated with LMN impairment. Its raised levels might reflect pathophysiological processes (tau hyperphosphorylation and/or release) occurring in the axons of LMNs distantly from the CNS and the CSF. pP-tau181 could also be associated with respiratory dysfunction.
    MeSH term(s) Humans ; Amyotrophic Lateral Sclerosis/diagnosis ; Motor Neurons ; Biomarkers/cerebrospinal fluid ; tau Proteins/cerebrospinal fluid
    Chemical Substances Biomarkers ; tau Proteins
    Language English
    Publishing date 2023-06-27
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06916-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The value of routine blood work-up in clinical stratification and prognosis of patients with amyotrophic lateral sclerosis.

    Gentile, Francesco / Maranzano, Alessio / Verde, Federico / Bettoni, Veronica / Colombo, Eleonora / Doretti, Alberto / Olivero, Marco / Scheveger, Francesco / Colombrita, Claudia / Bulgarelli, Ilaria / Spinelli, Edoardo Gioele / Torresani, Erminio / Messina, Stefano / Maderna, Luca / Agosta, Federica / Morelli, Claudia / Filippi, Massimo / Silani, Vincenzo / Ticozzi, Nicola

    Journal of neurology

    2023  Volume 271, Issue 2, Page(s) 794–803

    Abstract: Background: There is an unmet need in amyotrophic lateral sclerosis (ALS) to provide specific biomarkers for the disease. Due to their easy availability, we aimed to investigate whether routine blood parameters provide useful clues for phenotypic ... ...

    Abstract Background: There is an unmet need in amyotrophic lateral sclerosis (ALS) to provide specific biomarkers for the disease. Due to their easy availability, we aimed to investigate whether routine blood parameters provide useful clues for phenotypic classification and disease prognosis.
    Methods: We analyzed a large inpatient cohort of 836 ALS patients who underwent deep phenotyping with evaluation of the clinical and neurophysiological burden of upper (UMN) and lower (LMN) motor neuron signs. Disability and progression rate were measured through the revised ALS Functional Rating Scale (ALSFRS-R) and its changes during time. Cox regression analysis was performed to assess survival associations.
    Results: Creatinine significantly correlated with LMN damage (r = 0.38), active (r = 0.18) and chronic (r = 0.24) denervation and baseline ALSFRS-R (r = 0.33). Creatine kinase (CK), alanine (ALT) and aspartate (AST) transaminases correlated with active (r = 0.35, r = 0.27, r = 0.24) and chronic (r = 0.37, r = 0.20, r = 0.19) denervation, while albumin and C-reactive protein significantly correlated with LMN score (r = 0.20 and r = 0.17). Disease progression rate showed correlations with chloride (r = -0.19) and potassium levels (r = -0.16). After adjustment for known prognostic factors, total protein [HR 0.70 (95% CI 0.57-0.86)], creatinine [HR 0.86 (95% CI 0.81-0.92)], chloride [HR 0.95 (95% CI 0.92-0.99)], lactate dehydrogenase [HR 0.99 (95% CI 0.99-0.99)], and AST [HR 1.02 (95% CI 1.01-1.02)] were independently associated with survival.
    Conclusions: Creatinine is a reliable biomarker for ALS, associated with clinical features, disability and survival. Markers of nutrition/inflammation may offer additional prognostic information and partially correlate with clinical features. AST and chloride could further assist in predicting progression rate and survival.
    MeSH term(s) Humans ; Amyotrophic Lateral Sclerosis ; Creatinine ; Chlorides ; Disease Progression ; Prognosis ; Biomarkers
    Chemical Substances Creatinine (AYI8EX34EU) ; Chlorides ; Biomarkers
    Language English
    Publishing date 2023-10-06
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-12015-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Influence of kidney function and CSF/serum albumin ratio on plasma Aβ42 and Aβ40 levels measured on a fully automated platform in patients with Alzheimer's disease.

    Verde, Federico / Milone, Ilaria / Dubini, Antonella / Colombrita, Claudia / Perego, Alberto / Solca, Federica / Maranzano, Alessio / Ciusani, Emilio / Poletti, Barbara / Ratti, Antonia / Torresani, Erminio / Silani, Vincenzo / Ticozzi, Nicola

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 9, Page(s) 3287–3290

    Abstract: Introduction: Alzheimer's disease  (AD) is characterized by decreased cerebrospinal fluid (CSF) Aβ42 and Aβ42/Aβ40 ratio. Aβ peptides can now be measured also in plasma and are promising peripheral biomarkers for AD. We evaluated the relationships of ... ...

    Abstract Introduction: Alzheimer's disease  (AD) is characterized by decreased cerebrospinal fluid (CSF) Aβ42 and Aβ42/Aβ40 ratio. Aβ peptides can now be measured also in plasma and are promising peripheral biomarkers for AD. We evaluated the relationships of plasma Aβ species with their CSF counterparts, kidney function, and serum/CSF albumin ratio (Q-Alb) in AD patients.
    Materials and methods: We measured plasma Aβ42 and Aβ40, as well as CSF AD biomarkers, with the fully automated Lumipulse platform in a cohort of N = 30 patients with clinical and neurochemical diagnosis of AD.
    Results: The two plasma Aβ peptides correlated strongly with each other (r = 0.7449), as did the corresponding CSF biomarkers (r = 0.7670). On the contrary, the positive correlations of plasma Aβ42, Aβ40, and Aβ42/Aβ40 ratio with their CSF counterparts and the negative correlation of plasma Aβ42/Aβ40 ratio with CSF P-tau181 were not statistically significant. Plasma levels of both Aβ species negatively correlated with estimated glomerular filtration rate (eGFR) (Aβ42: r = -0.4138; Aβ40: r = -0.6015), but plasma Aβ42/Aβ40 ratio did not. Q-Alb did not correlate with any plasma Aβ parameter.
    Discussion: Plasma Aβ42 and Aβ40 are critically influenced by kidney function; however, their ratio is advantageously spared from this effect. The lack of significant correlations between plasma Aβ species and their CSF counterparts is probably mainly due to small sample size and inclusion of only Aβ + individuals. Q-Alb is not a major determinant of plasma Aβ concentrations, highlighting the uncertainties about mechanisms of Aβ transfer between CNS and periphery.
    MeSH term(s) Humans ; Alzheimer Disease/diagnosis ; Serum Albumin ; Amyloid beta-Peptides/cerebrospinal fluid ; Peptide Fragments/cerebrospinal fluid ; Biomarkers ; Kidney
    Chemical Substances amyloid beta-protein (1-42) ; Serum Albumin ; Amyloid beta-Peptides ; Peptide Fragments ; Biomarkers
    Language English
    Publishing date 2023-06-07
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06882-x
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  6. Article ; Online: Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.

    Colombo, Eleonora / Poletti, Barbara / Maranzano, Alessio / Peverelli, Silvia / Solca, Federica / Colombrita, Claudia / Torre, Silvia / Tiloca, Cinzia / Verde, Federico / Bonetti, Ruggero / Carelli, Laura / Morelli, Claudia / Ratti, Antonia / Silani, Vincenzo / Ticozzi, Nicola

    Journal of neurology

    2022  Volume 270, Issue 2, Page(s) 898–908

    Abstract: Introduction: Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to ... ...

    Abstract Introduction: Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor.
    Methods: We studied a cohort of 960 ALS patients (101 familial and 859 sporadic cases). Motor phenotype was determined using the MRC scale, the lower motor neuron score (LMNS) and the Penn upper motor neuron score (PUMNS). Neuropsychological profile was studied using the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), the Frontal Behavioral Inventory (FBI), the Beck Depression Inventory-II (BDI-II) and the State-Trait Anxiety Inventory (STAI). A two-step PCR protocol and Southern blotting were performed to determine the presence and the size of C9orf72 HRE, respectively.
    Results: C9orf72 HRE was detected in 55/960 ALS patients. C9Pos patients showed a younger onset, higher odds of bulbar onset, increased burden of UMN signs, reduced survival and higher frequency of concurrent dementia. We found an inverse correlation between the HRE length and the performance at ECAS ALS-specific tasks (P = 0.031). Patients also showed higher burden of behavioural disinhibition (P = 1.6 × 10
    Conclusions: Our study provides an extensive characterization of motor, cognitive and behavioural features of C9orf72-related ALS, indicating that the C9orf72 HRE size may represent a modifier of the cognitive phenotype.
    MeSH term(s) Humans ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/psychology ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Proteins/genetics ; Cognition ; Frontotemporal Dementia/genetics
    Chemical Substances C9orf72 Protein ; Proteins ; C9orf72 protein, human
    Language English
    Publishing date 2022-10-29
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-022-11433-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genetic and epigenetic disease modifiers in an Italian

    Ratti, Antonia / Peverelli, Silvia / D'Adda, Elisabetta / Colombrita, Claudia / Gennuso, Michele / Prelle, Alessandro / Silani, Vincenzo

    Amyotrophic lateral sclerosis & frontotemporal degeneration

    2021  Volume 23, Issue 3-4, Page(s) 292–298

    Abstract: Objective: ...

    Abstract Objective:
    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Epigenesis, Genetic/genetics ; Frontotemporal Dementia/genetics ; Humans ; Parkinson Disease/genetics ; Phenotype
    Chemical Substances C9orf72 Protein ; C9orf72 protein, human
    Language English
    Publishing date 2021-08-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2705049-X
    ISSN 2167-9223 ; 2167-8421
    ISSN (online) 2167-9223
    ISSN 2167-8421
    DOI 10.1080/21678421.2021.1962355
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  8. Article ; Online: SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution.

    Maraschi, AnnaMaria / Gumina, Valentina / Dragotto, Jessica / Colombrita, Claudia / Mompeán, Miguel / Buratti, Emanuele / Silani, Vincenzo / Feligioni, Marco / Ratti, Antonia

    Molecular neurobiology

    2021  Volume 58, Issue 11, Page(s) 5682–5702

    Abstract: The nuclear RNA-binding protein TDP-43 forms abnormal cytoplasmic aggregates in the brains of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients and several molecular mechanisms promoting TDP-43 cytoplasmic mislocalization and ...

    Abstract The nuclear RNA-binding protein TDP-43 forms abnormal cytoplasmic aggregates in the brains of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients and several molecular mechanisms promoting TDP-43 cytoplasmic mislocalization and aggregation have been proposed, including defects in nucleocytoplasmic transport, stress granules (SG) disassembly and post-translational modifications (PTM). SUMOylation is a PTM which regulates a variety of cellular processes and, similarly to ubiquitination, targets lysine residues. To investigate the possible regulatory effects of SUMOylation on TDP-43 activity and trafficking, we first assessed that TDP-43 is SUMO-conjugated in the nuclear compartment both covalently and non-covalently in the RRM1 domain at the predicted lysine 136 and SUMO-interacting motif (SIM, 106-110 residues), respectively. By using the SUMO-mutant TDP-43 K136R protein, we demonstrated that SUMOylation modifies TDP-43 splicing activity, specifically exon skipping, and influences its sub-cellular localization and recruitment to SG after oxidative stress. When promoting deSUMOylation by SENP1 enzyme over-expression or by treatment with the cell-permeable SENP1 peptide TS-1, the cytoplasmic localization of TDP-43 increased, depending on its SUMOylation. Moreover, deSUMOylation by TS-1 peptide favoured the formation of small cytoplasmic aggregates of the C-terminal TDP-43 fragment p35, still containing the SUMO lysine target 136, but had no effect on the already formed p25 aggregates. Our data suggest that TDP-43 can be post-translationally modified by SUMOylation which may regulate its splicing function and trafficking, indicating a novel and druggable mechanism to explore as its dysregulation may lead to TDP-43 pathological aggregation in ALS and FTD.
    MeSH term(s) Cell Line, Tumor ; Cell Nucleus/chemistry ; Cytoplasm/chemistry ; DNA-Binding Proteins/analysis ; DNA-Binding Proteins/metabolism ; HEK293 Cells ; Humans ; Models, Molecular ; Molecular Dynamics Simulation ; Nerve Tissue Proteins/analysis ; Nerve Tissue Proteins/metabolism ; Neuroblastoma ; Peptide Fragments/pharmacology ; Potassium Chloride/pharmacology ; Protein Conformation ; Protein Processing, Post-Translational ; Protein Transport ; RNA Interference ; RNA Splicing ; RNA, Small Interfering/pharmacology ; Sequence Alignment ; Sequence Homology, Amino Acid ; Stress Granules ; Sumoylation
    Chemical Substances DNA-Binding Proteins ; Nerve Tissue Proteins ; Peptide Fragments ; RNA, Small Interfering ; TARDBP protein, human ; Potassium Chloride (660YQ98I10)
    Language English
    Publishing date 2021-08-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645020-9
    ISSN 1559-1182 ; 0893-7648
    ISSN (online) 1559-1182
    ISSN 0893-7648
    DOI 10.1007/s12035-021-02505-8
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  9. Article ; Online: Inter-Species Differences in Regulation of the Progranulin-Sortilin Axis in TDP-43 Cell Models of Neurodegeneration.

    Gumina, Valentina / Onesto, Elisa / Colombrita, Claudia / Maraschi, AnnaMaria / Silani, Vincenzo / Ratti, Antonia

    International journal of molecular sciences

    2019  Volume 20, Issue 23

    Abstract: Cytoplasmic aggregates and nuclear depletion of the ubiquitous RNA-binding protein TDP-43 have been described in the autoptic brain tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTLD) patients and both TDP-43 loss-of- ... ...

    Abstract Cytoplasmic aggregates and nuclear depletion of the ubiquitous RNA-binding protein TDP-43 have been described in the autoptic brain tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTLD) patients and both TDP-43 loss-of-function and gain-of-function mechanisms seem to contribute to the neurodegenerative process. Among the wide array of RNA targets, TDP-43 regulates progranulin (
    MeSH term(s) Adaptor Proteins, Vesicular Transport/genetics ; Adaptor Proteins, Vesicular Transport/metabolism ; Animals ; Cell Line, Tumor ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Humans ; Mice ; Models, Biological ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Neurodegenerative Diseases/pathology ; Neurodegenerative Diseases/therapy ; Progranulins/genetics ; Progranulins/metabolism ; Signal Transduction ; Species Specificity
    Chemical Substances Adaptor Proteins, Vesicular Transport ; DNA-Binding Proteins ; GRN protein, human ; Grn protein, mouse ; Progranulins ; TARDBP protein, human ; TDP-43 protein, mouse ; sortilin (Z020Y8WIJ4)
    Language English
    Publishing date 2019-11-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms20235866
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  10. Article ; Online: Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

    Santangelo, Serena / Bossolasco, Patrizia / Magri, Stefania / Colombrita, Claudia / Invernizzi, Sabrina / Gellera, Cinzia / Nanetti, Lorenzo / Di Bella, Daniela / Silani, Vincenzo / Taroni, Franco / Ratti, Antonia

    Stem cell research

    2022  Volume 66, Page(s) 103008

    Abstract: We generated an iPSC line from a patient with spastic paraplegia type 10 (SPG10) carrying the novel missense variant c.50G > A (p.R17Q) in the N-terminal motor domain of the kinesin family member 5A (KIF5A) gene. This patient-derived in vitro cell model ... ...

    Abstract We generated an iPSC line from a patient with spastic paraplegia type 10 (SPG10) carrying the novel missense variant c.50G > A (p.R17Q) in the N-terminal motor domain of the kinesin family member 5A (KIF5A) gene. This patient-derived in vitro cell model will help to investigate the role of different KIF5A mutations in inducing neurodegeneration in spastic paraplegia and in other KIF5A-related disorders, including Charcot-Marie-Tooth type 2 (CMT2) and amyotrophic lateral sclerosis (ALS).
    MeSH term(s) Humans ; Induced Pluripotent Stem Cells/metabolism ; Spastic Paraplegia, Hereditary/genetics ; Kinesins/genetics ; Mutation/genetics ; Paraplegia
    Chemical Substances Kinesins (EC 3.6.4.4) ; KIF5A protein, human
    Language English
    Publishing date 2022-12-21
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2022.103008
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