1. Beebe LH, Farmer S. {{How to Talk to Parents about Autism-A Norton Professional Book How to Talk to Parents about Autism-A Norton Professional Book Roy Q. Sanders W.W. Norton , New York , 2008 ISBN 978-0-393-70529-4}}. {Issues Ment Health Nurs}. 2011;32(9):610.
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2. Blackwell E, Ceman S. {{A new regulatory function of the region proximal to the RGG box in the Fragile X mental retardation protein}}. {J Cell Sci}. 2011 Aug 24.
Fragile X mental retardation protein (FMRP) is required for normal cognition. FMRP has two autosomal paralogs, which although similar to FMRP, cannot compensate for the loss of FMRP expression in brain. The arginine- and glycine-rich region of FMRP (the RGG box) is unique; it is the high-affinity RNA-binding motif in FMRP and is encoded by exon 15. Alternative splicing occurs in the 5′ end of exon 15, which is predicted to affect the structure of the distally encoded RGG box. Here, we provide evidence that isoform 3, which removes 25 amino acids from the 5′ end of exon 15, has an altered conformation that reduces binding of a specific antibody and renders the RGG box unable to efficiently associate with polyribosomes. Isoform 3 is also compromised in its ability to form granules and to associate with a key messenger ribonucleoprotein Yb1 (also known as p50, NSEP1 and YBX1). Significantly, these functions are similarly compromised when the RGG box is absent from FMRP, suggesting an important regulatory role of the N-terminal region encoded by exon 15.
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3. Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, et al. {{Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE}}. {Hum Mol Genet}. 2011 Aug 24.
Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs). We performed array comparative genomic hybridization (CGH) using a custom Agilent 1M oligonucleotide array intended to cover 197,332 unique exons in RefSeq genes; 98% were covered by at least one probe and 95% were covered by three or more probes with the focus on detecting relatively small copy number variants that would implicate a single protein coding gene. The study group included 99 trios from the Simons Simplex Collection. The analysis identified and validated 55 potentially pathogenic CNVs, categorized as de novo, autosomal heterozygous, inherited homozygous autosomal, complex autosomal, and hemizygous deletions on the X chromosome of probands. Twenty percent (11 of 55) of these CNV calls were rare when compared to the Database of Genomic Variants. Thirty-six percent (20 of 55) of the CNVs were also detected in the same samples in an independent analysis using the 1M Illumina SNP array. Findings of note included a common and sometimes homozygous 61 bp exonic deletion in SLC38A10, three CNVs found in lymphoblast-derived DNA but not present in whole-blood derived DNA and, most importantly, in a male proband, an exonic deletion of the TMLHE that encodes the first enzyme in the biosynthesis of carnitine. Data for CNVs present in lymphoblasts but absent in fresh blood DNA suggest that these represent clonal outgrowth of individual B cells with pre-existing somatic mutations rather than artifacts arising in cell culture.
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4. Happe F, Charlton RA. {{Aging in Autism Spectrum Disorders: A Mini-Review}}. {Gerontology}. 2011 Aug 24.
This article addresses an important and barely researched topic: what happens to children with autism spectrum disorders when they grow old. We review the small published literature on aging in autism. We then consider the relevance of research on ‘neurotypical’ aging in core domains of autistic impairment: social cognition, executive function, cognitive style and memory. Research themes from the study of normal aging, including cognitive reserve, compensation, quality of life, loneliness and physical health are of relevance for future research on autism. Studies of aging in autism will be important not only to plan appropriate services, but also to shed light on the full developmental trajectory of this neurodevelopmental condition, and perhaps provide clues to neuropathology and etiology.
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5. Suda S, Iwata K, Shimmura C, Kameno Y, Anitha A, Thanseem I, et al. {{Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism}}. {Mol Autism}. 2011 Aug 22;2(1):14.
ABSTRACT: BACKGROUND: Axon-guidance proteins play a crucial role in brain development. As the dysfunction of axon-guidance signaling is thought to underlie the microstructural abnormalities of the brain in people with autism, we examined the postmortem brains of people with autism to identify any changes in the expression of axon-guidance proteins. RESULTS: The mRNA and protein expression of axon-guidance proteins, including ephrin (EFN) A4, EFNB3, plexin (PLXN) A4, roundabout (ROBO) 2 and ROBO3, were examined in the anterior cingulate cortex and primary motor cortex of autistic brains (n = 8 and n = 7, respectively) and control brains (n = 13 and n = 8, respectively) using real-time reverse-transcriptase PCR (RT-PCR) and western blotting. Real-time RT-PCR revealed that the relative expression levels of EFNB3, PLXNA4 and ROBO2 were significantly lower in the autistic group than in the control group. The protein levels of these three genes were further analyzed by western blotting, which showed that the immunoreactive values for PLXNA4 and ROBO2, but not for EFNB3, were significantly reduced in the ACC of the autistic brains compared with control brains. CONCLUSIONS: In this study, we found decreased expression of axon-guidance proteins such as PLXNA4 and ROBO2 in the brains of people with autism, and suggest that dysfunctional axon-guidance protein expression may play an important role in the pathophysiology of autism.
