Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
2 recherche sur le mot-clé 'Fragile X syndrome (FXS)'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents / M. C. VAN REMMERDEN in Journal of Autism and Developmental Disorders, 50-6 (June 2020)
[article]
Titre : Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents Type de document : Texte imprimé et/ou numérique Auteurs : M. C. VAN REMMERDEN, Auteur ; L. HOOGLAND, Auteur ; S. E. MOUS, Auteur ; Bram DIERCKX, Auteur ; M. COESMANS, Auteur ; H. A. MOLL, Auteur ; K. LUBBERS, Auteur ; C. R. LINCKEN, Auteur ; A. M. VAN EEGHEN, Auteur Article en page(s) : p.2174-2187 Langues : Anglais (eng) Mots-clés : Fragile X syndrome (FXS) ICF classification Intellectual disability Neurodevelopmental disorders Qualitative research Transition Index. décimale : PER Périodiques Résumé : Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-03973-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425
in Journal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2174-2187[article] Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents [Texte imprimé et/ou numérique] / M. C. VAN REMMERDEN, Auteur ; L. HOOGLAND, Auteur ; S. E. MOUS, Auteur ; Bram DIERCKX, Auteur ; M. COESMANS, Auteur ; H. A. MOLL, Auteur ; K. LUBBERS, Auteur ; C. R. LINCKEN, Auteur ; A. M. VAN EEGHEN, Auteur . - p.2174-2187.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-6 (June 2020) . - p.2174-2187
Mots-clés : Fragile X syndrome (FXS) ICF classification Intellectual disability Neurodevelopmental disorders Qualitative research Transition Index. décimale : PER Périodiques Résumé : Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS. En ligne : http://dx.doi.org/10.1007/s10803-019-03973-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425 Synaptic vesicle dynamic changes in a model of fragile X / Jantine A.C. BROEK in Molecular Autism, 7 (2016)
[article]
Titre : Synaptic vesicle dynamic changes in a model of fragile X Type de document : Texte imprimé et/ou numérique Auteurs : Jantine A.C. BROEK, Auteur ; Z. LIN, Auteur ; H. M. DE GRUITER, Auteur ; H. VAN 'T SPIJKER, Auteur ; E. D. HAASDIJK, Auteur ; David COX, Auteur ; S. OZCAN, Auteur ; G. W. A. VAN CAPPELLEN, Auteur ; A. B. HOUTSMULLER, Auteur ; R. WILLEMSEN, Auteur ; C. I. DE ZEEUW, Auteur ; S. BAHN, Auteur Article en page(s) : 17p. Langues : Anglais (eng) Mots-clés : Animals Animals, Congenic Cells, Cultured Cerebellum/pathology/physiopathology Fluorescent Dyes Fragile X Mental Retardation Protein/genetics/physiology Fragile X Syndrome/genetics/metabolism/physiopathology Hippocampus/pathology/physiopathology Intravital Microscopy Male Mass Spectrometry/methods Mice Mice, Inbred C57BL Mice, Knockout Mice, Neurologic Mutants Microscopy, Electron Models, Animal Nerve Tissue Proteins/analysis Presynaptic Terminals/secretion Proteome Purkinje Cells/physiology/ultrastructure Pyridinium Compounds Quaternary Ammonium Compounds Signal Transduction Synaptic Transmission Synaptic Vesicles/metabolism Synaptosomes/metabolism Electron microscopy Fragile X syndrome (FXS) Mass spectrometry (MS) Quantitative live-cell imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated. METHODS: Here, we used an Fmr1 knockout (KO) mouse model to investigate the molecular mechanisms underlying FXS by monitoring protein expression changes using shotgun label-free liquid-chromatography mass spectrometry (LC-MS(E)) in brain tissue and synaptosome fractions. FXS-associated candidate proteins were validated using selected reaction monitoring (SRM) in synaptosome fractions for targeted protein quantification. Furthermore, functional alterations in synaptic release and dynamics were evaluated using live-cell imaging, and interpretation of synaptic dynamics differences was investigated using electron microscopy. RESULTS: Key findings relate to altered levels of proteins involved in GABA-signalling, especially in the cerebellum. Further exploration using microscopy studies found reduced synaptic vesicle unloading of hippocampal neurons and increased vesicle unloading in cerebellar neurons, which suggests a general decrease of synaptic transmission. CONCLUSIONS: Our findings suggest that FMRP is a regulator of synaptic vesicle dynamics, which supports the role of FMRP in presynaptic functions. Taken together, these studies provide novel insights into the molecular changes associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-016-0080-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328
in Molecular Autism > 7 (2016) . - 17p.[article] Synaptic vesicle dynamic changes in a model of fragile X [Texte imprimé et/ou numérique] / Jantine A.C. BROEK, Auteur ; Z. LIN, Auteur ; H. M. DE GRUITER, Auteur ; H. VAN 'T SPIJKER, Auteur ; E. D. HAASDIJK, Auteur ; David COX, Auteur ; S. OZCAN, Auteur ; G. W. A. VAN CAPPELLEN, Auteur ; A. B. HOUTSMULLER, Auteur ; R. WILLEMSEN, Auteur ; C. I. DE ZEEUW, Auteur ; S. BAHN, Auteur . - 17p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 17p.
Mots-clés : Animals Animals, Congenic Cells, Cultured Cerebellum/pathology/physiopathology Fluorescent Dyes Fragile X Mental Retardation Protein/genetics/physiology Fragile X Syndrome/genetics/metabolism/physiopathology Hippocampus/pathology/physiopathology Intravital Microscopy Male Mass Spectrometry/methods Mice Mice, Inbred C57BL Mice, Knockout Mice, Neurologic Mutants Microscopy, Electron Models, Animal Nerve Tissue Proteins/analysis Presynaptic Terminals/secretion Proteome Purkinje Cells/physiology/ultrastructure Pyridinium Compounds Quaternary Ammonium Compounds Signal Transduction Synaptic Transmission Synaptic Vesicles/metabolism Synaptosomes/metabolism Electron microscopy Fragile X syndrome (FXS) Mass spectrometry (MS) Quantitative live-cell imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated. METHODS: Here, we used an Fmr1 knockout (KO) mouse model to investigate the molecular mechanisms underlying FXS by monitoring protein expression changes using shotgun label-free liquid-chromatography mass spectrometry (LC-MS(E)) in brain tissue and synaptosome fractions. FXS-associated candidate proteins were validated using selected reaction monitoring (SRM) in synaptosome fractions for targeted protein quantification. Furthermore, functional alterations in synaptic release and dynamics were evaluated using live-cell imaging, and interpretation of synaptic dynamics differences was investigated using electron microscopy. RESULTS: Key findings relate to altered levels of proteins involved in GABA-signalling, especially in the cerebellum. Further exploration using microscopy studies found reduced synaptic vesicle unloading of hippocampal neurons and increased vesicle unloading in cerebellar neurons, which suggests a general decrease of synaptic transmission. CONCLUSIONS: Our findings suggest that FMRP is a regulator of synaptic vesicle dynamics, which supports the role of FMRP in presynaptic functions. Taken together, these studies provide novel insights into the molecular changes associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-016-0080-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328