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https://www.readbyqxmd.com/read/29445033/rett-syndrome-a-neurological-disorder-with-metabolic-components
#1
REVIEW
Stephanie M Kyle, Neeti Vashi, Monica J Justice
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 ( MECP2 ), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system...
February 2018: Open Biology
https://www.readbyqxmd.com/read/29442069/human-rett-derived-neuronal-progenitor-cells-in-3d-graphene-scaffold-as-an-in-vitro-platform-to-study-the-effect-of-electrical-stimulation-on-neuronal-differentiation
#2
Anh Tuan Nguyen, Sabrina Mattiassi, Manuela Loeblein, Eunice Chin, DongLiang Ma, Philippe Coquet, Virgile Viasnoff, E H T Teo, Eyleen L Goh, Evelyn Yim
Studies of electrical stimulation therapies for the treatment of neurological disorders, such as deep brain stimulation, have almost exclusively been performed using animal-models. However, because animal-models can only approximate human brain disorders, these studies should be supplemented with an in vitro human cell-culture based model to substantiate the results of animal-based studies and further investigate therapeutic benefit in humans. This study presents a novel approach to analyse the effect of electrical stimulation on the neurogenesis of patient-induced pluripotent stem cell (iPSC) derived neural progenitor cell (NPC) lines, in vitro using a 3D graphene scaffold system...
February 14, 2018: Biomedical Materials
https://www.readbyqxmd.com/read/29431277/mecp2-at-hook1-mutations-in-patients-with-intellectual-disability-and-or-schizophrenia-disrupt-dna-binding-and-chromatin-compaction-in-vitro
#3
Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincent
Mutations in the Methyl-CpG-binding protein-2 gene (MECP2) are commonly associated with Rett syndrome. However, it has long been appreciated that there exists a spectrum of neuropsychiatric phenotypes associated with MECP2 variants. The most frequent Rett missense mutations are located in either the methyl-CpG-binding domain (MBD) or transcription repression domain (TRD). Clinical roles for mutations in other domains such as the intervening domain (ID) or AT-Hook domains have yet to be determined. Here, we report functional analysis of MECP2 missense mutations, located in AT-Hook1 within the ID, in a large Pakistani family with childhood onset cognitive decline and schizophrenia, de novo in a girl with atypical Rett syndrome, and de novo in a woman with schizophrenia...
February 12, 2018: Human Mutation
https://www.readbyqxmd.com/read/29428920/molecular-testing-of-mecp2-gene-in-rett-syndrome-phenotypes-in-indian-girls
#4
Meenakshi Lallar, Archana Rai, Priyanka Srivastava, Kausik Mandal, Neerja Gupta, Madhulika Kabra, Shubha R Phadke
OBJECTIVE: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN: Descriptive study. SETTING: Tertiary-care medical genetics center. PATIENTS: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010...
February 9, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29428602/tyr120asp-mutation-alters-domain-flexibility-and-dynamics-of-mecp2-dna-binding-domain-leading-to-impaired-dna-interaction-atomistic-characterization-of-a-rett-syndrome-causing-mutation
#5
Ilda D'Annessa, Anna Gandaglia, Elena Brivio, Gilda Stefanelli, Angelisa Frasca, Nicoletta Landsberger, Daniele Di Marino
Mutations in the X-linked MECP2 gene represent the main origin of Rett syndrome, causing a profound intellectual disability in females. MeCP2 is an epigenetic transcriptional regulator containing two main functional domains: a methyl-CpG binding domain (MBD) and a transcription repression domain (TRD). Over 600 pathogenic mutations were reported to affect the whole protein; almost half of missense mutations affect the MBD. Understanding the impact of these mutations on the MBD structure and interaction with DNA will foster the comprehension of their pathogenicity and possibly genotype/phenotype correlation studies...
February 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29421650/first-report-of-an-unusual-novel-double-mutation-affecting-the-transcription-repression-domain-of-mecp2-and-causing-a-severe-phenotype-of-rett-syndrome-molecular-analyses-and-computational-investigation
#6
Rania Ghorbel, Raouia Ghorbel, Aida Rouissi, Nourhene Fendri-Kriaa, Ghada Ben Saleh, Neila Belguith, Leila Ammar-Keskes, Neziha Gouider-Khouja, Faiza Fakhfakh
Rett syndrome is an X-linked neurodevelopmental disorder that develops a profound intellectual and motor disability and affects 1 from 10 000 to 15 000 live female births. This disease is characterized by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress which is caused by mutations occurred in the X-linked MECP2 gene, encoding the methyl-CpG binding protein 2. This research study reports a molecular analysis via an exhaustive gene sequencing which reveals an unusual novel double mutation (c...
February 5, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29420175/cdkl-family-kinases-have-evolved-distinct-structural-features-and-ciliary-function
#7
Peter Canning, Kwangjin Park, João Gonçalves, Chunmei Li, Conor J Howard, Timothy D Sharpe, Liam J Holt, Laurence Pelletier, Alex N Bullock, Michel R Leroux
Various kinases, including a cyclin-dependent kinase (CDK) family member, regulate the growth and functions of primary cilia, which perform essential roles in signaling and development. Neurological disorders linked to CDK-Like (CDKL) proteins suggest that these underexplored kinases may have similar functions. Here, we present the crystal structures of human CDKL1, CDKL2, CDKL3, and CDKL5, revealing their evolutionary divergence from CDK and mitogen-activated protein kinases (MAPKs), including an unusual ?J helix important for CDKL2 and CDKL3 activity...
January 23, 2018: Cell Reports
https://www.readbyqxmd.com/read/29414525/electrographic-and-pharmacological-characterization-of-a-progressive-epilepsy-phenotype-in-female-mecp2-deficient-mice
#8
Robert G Wither, Sinisa Colic, Berj L Bardakjian, O Carter Snead, Liang Zhang, James H Eubanks
Rett Syndrome is a neurodevelopmental disorder caused primarily by mutations in the gene encoding Methyl-CpG-binding protein 2 (MECP2). Spontaneous epileptiform activity is a common co-morbidity present in Rett syndrome, and hyper-excitable neural networks are present in MeCP2-deficient mouse models of Rett syndrome. In this study we conducted a longitudinal assessment of spontaneous cortical electrographic discharges in female MeCP2-deficient mice and defined the pharmacological responsiveness of these discharges to anti-convulsant drugs...
January 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29405930/mecp2-as-an-activator-of-gene-expression
#9
Patricia M Horvath, Lisa M Monteggia
Rett syndrome is a neurodevelopmental disorder that primarily affects females and is caused by mutations in the methyl-CpG-binding-protein 2 (MECP2) gene. Initially, MeCP2 had been shown to be a repressor of gene transcription. In their 2008 paper, Chahrour and colleagues (DOI: 10.1126/science.1153252) reported that MeCP2 could also function as a transcriptional activator.
February 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29395664/rett-like-features-and-cortical-visual-impairment-in-a-japanese-patient-with-hecw2-mutation
#10
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1 year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4 years, and diminished activity was noticeable since the age of 12 years, suggesting neurodevelopmental regression...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29391075/health-and-community-based-services-for-individuals-with-neurological-conditions
#11
Sarah E P Munce, Kristen B Pitzul, Sara J T Guilcher, Tarik Bereket, Mae Kwan, James Conklin, Joan Versnel, Tanya Packer, Molly Verrier, Connie Marras, Richard Riopelle, Susan B Jaglal
BACKGROUND: The current study involves a national survey of healthcare providers who offer services for individuals with a variety of neurological conditions. It aims to describe the provision of health and community-based services as well as the admission criteria, waitlist practices, and referral sources of these services. METHODS: An online survey was directed at administrators/managers from publicly funded hospital programs, long-term care homes, and community-based healthcare provider agencies that were believed to be providing information and/or services to patients with a variety of neurological conditions...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29388081/loss-of-angelman-syndrome-protein-e6ap-disrupts-a-novel-antagonistic-estrogen-retinoic-acid-transcriptional-crosstalk-in-neurons
#12
Jimmy El Hokayem, Edwin Weeber, Zafar Nawaz
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. AS affects an estimated 1 in 12,000 to 20,000 individuals. Characteristic features of AS includes developmental delay or intellectual disability, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). AS individuals usually have microdeletion of the maternal copy of 15q11.2-15q13 region of chromosome 15. The E6-associated protein (E6AP, an E3 ubiquitin protein ligase enzyme) is encoded by the gene UBE3A, which is located in this region, and it has been shown that deregulation of E6AP gives rise to AS and neuropathology of autism spectrum disorders (ASDs) (e...
January 31, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29385539/foxg1-overexpression-in-neocortical-pyramids-stimulates-dendrite-elongation-via-hes1-and-pcreb1-upregulation
#13
Simone Chiola, Mihn Duc Do, Lucy Centrone, Antonello Mallamaci
The architecture of neocortical projection neurons is subject of a complex gene control. Here we demonstrated that Foxg1, a transcription factor gene which patterns the early rostral brain and sets the pace of telencephalic neuronogenesis, specifically stimulates dendrite elongation. This phenomenon occurs in vivo like in vitro, and it is detectable even upon moderate changes of Foxg1 expression levels. We found that Foxg1 acts by stimulating Hes1, which in turn upregulates pCreb1, a well-known pro-dendritogenic effector, and downregulates Syt and Ndr1, namely two established antagonizers of dendrite elongation...
January 28, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29373156/initial-observations-of-salivary-brain-derived-neurotrophic-factor-levels-in-rett-syndrome
#14
Breanne Byiers, Chantel Barney, Michael Ehrhardt, Angela Panoskaltsis-Mortari, Timothy Feyma, Arthur Beisang, Frank J Symons
No abstract text is available yet for this article.
December 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29370281/correction-d-cycloserine-improves-synaptic-transmission-in-an-animal-mode-of-rett-syndrome
#15
Elisa S Na, Héctor De Jesús-Cortés, Arlene Martinez-Rivera, Zeeba D Kabir, Jieqi Wang, Vijayashree Ramesh, Yasemin Onder, Anjali M Rajadhyaksha, Lisa M Monteggia, Andrew A Pieper
[This corrects the article DOI: 10.1371/journal.pone.0183026.].
2018: PloS One
https://www.readbyqxmd.com/read/29366381/an-atypical-rett-syndrome-phenotype-due-to-a-novel-missense-mutation-in-cacna1a
#16
Madison V Epperson, Michael E Haws, Shannon M Standridge, Donald L Gilbert
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29341476/a-rare-male-patient-with-classic-rett-syndrome-caused-by-mecp2_e1-mutation
#17
Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29333487/activation-of-the-medial-prefrontal-cortex-reverses-cognitive-and-respiratory-symptoms-in-a-mouse-model-of-rett-syndrome
#18
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Katz
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2; Amir et al., 1999), a transcriptional regulatory protein (Klose et al., 2005). Mouse models of RTT (Mecp2 mutants) exhibit excitatory hypoconnectivity in the medial prefrontal cortex (mPFC; Sceniak et al., 2015), a region critical for functions that are abnormal in RTT patients, ranging from learning and memory to regulation of visceral homeostasis (Riga et al...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29332766/cognitive-function-in-rett-syndrome-profoundly-impaired-or-near-normal
#19
EDITORIAL
Gunter Loffler, Gael E Gordon
No abstract text is available yet for this article.
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29329583/correction-to-dendrimer-mediated-delivery-of-n-acetyl-cysteine-to-microglia-in-a-mouse-model-of-rett-syndrome
#20
Elizabeth Nance, Siva P Kambhampati, Elizabeth S Smith, Zhi Zhang, Fan Zhang, Sarabdeep Singh, Michael V Johnston, Rangaramanujam M Kannan, Mary E Blue, Sujatha Kannan
After publication of the article [1], it has been brought to our attention that an author's name has been formatted incorrectly.
January 12, 2018: Journal of Neuroinflammation
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