Replication of association between ELAVL4 and Parkinson disease: the GenePD study

DeStefano, Anita L.; Latourelle, Jeanne C.; Lew, Mark F.; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I.; Mark, Margery H.; Growdon, John H.; Wooten, G. F.; Watts, Ray L.; Guttman, Mark; Racette, Brad A.; Perlmutter, Joel S.; Marlor, Lynn; Shill, Holly A.; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Saint-Hilaire, Marie H.; Hendricks, Audrey E.; Gower, Adam C.; Williamson, Sally; Nagle, Michael W.; Wilk, Jemma B.; Massood, Tiffany; Huskey, Karen W.; Baker, Kenneth B.; Itin, Ilia; Litvan, Irene; Nicholson, Garth A.; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J.; Chinnery, Patrick F.; Pramstaller, Peter P.; Al-hinti, Jomana; Møller, Anette Torvin; Østergaard, Karen; Sherman, Scott J.; Roxburgh, Richard; Snow, Barry; Slevin, John T.; Cambi, Franca; Gusella, James F.; Myers, Richard H.

doi:10.1007/s00439-008-0526-4

Cited by 33 publications

(32 citation statements)

References 14 publications

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“…For example, at least two single nucleotide polymorphisms in the ELAVL4 gene locus are associated with the age of onset of Parkinson’s disease (PD), a motor and cognitive disorder, in a clinical study of 1,223 members of 643 families (Noureddine et al, 2005). This study was replicated several years later by genotyping the two previously reported risk alleles for PD and discovering a third minor risk allele, confirming and extending ELAVL4’s link to PD (DeStefano et al, 2008). An interceding study of PD and control patients from the United States, Norway, and Ireland narrowed a possible genetic founder to an Irish population while confirming the locus and identity of the two previously reported risk alleles (rs9675852 and rs3902720) (Haugarvoll et al, 2007).…”

Section: Elav Rbpssupporting

confidence: 65%

Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons

et al. 2013

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The mature neocortex is a unique six-layered mammalian brain region. It is composed of morphologically and functionally distinct subpopulations of primary projection neurons that form complex circuits across the central nervous system. The precisely-timed generation of projection neurons from neural stem cells governs their differentiation, postmitotic specification, and signaling, and is critical for cognitive and sensorimotor ability. Developmental perturbations to the birthdate, location, and connectivity of neocortical neurons are observed in neurological and psychiatric disorders. These facts are highlighting the importance of the precise spatiotemporal development of the neocortex regulated by intricate transcriptional, but also complex post-transcriptional events. Indeed, mRNA transcripts undergo many post-transcriptional regulatory steps before the production of functional proteins, which specify neocortical neural stem cells and subpopulations of neocortical neurons. Therefore, particular attention is paid to the differential post-transcriptional regulation of key transcripts by RNA-binding proteins, including splicing, localization, stability, and translation. We also present a transcriptome screen of candidate molecules associated with post-transcriptional mRNA processing that are differentially expressed at key developmental time points across neocortical prenatal neurogenesis.

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Section: Elav Rbpssupporting

confidence: 65%

Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons

et al. 2013

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“…The PARK10 locus was also linked to age at onset for PD in a US sample [248]. Association between SNPs in the candidate gene ELAVL4 and age at onset for PD or susceptibility to PD were reported in Caucasian populations [249][250][251], but have not been confirmed in other populations.…”

Section: Park10mentioning

confidence: 96%

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

et al. 2011

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“…A second study analyzed five SNPs in the HuD locus from Norwegian, United States, and Irish PD and control samples and found that two SNPs (rs967582 and rs3902720) are associated with AAO of PD but only in Irish patient samples, possibly due to a Celtic founder effect (Haugarvoll et al 2007). Last, a subsequent study employed samples from a Caucasian population to confirm that the rs967582 SNP is associated with increased risk of PD (DeStefano et al 2008).…”

Section: Neurological Disordersmentioning

confidence: 99%

Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction

Bronicki

Jasmin

2013

RNA

106

118

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Precise control of messenger RNA (mRNA) processing and abundance are increasingly being recognized as critical for proper spatiotemporal gene expression, particularly in neurons. These regulatory events are governed by a large number of transacting factors found in neurons, most notably RNA-binding proteins (RBPs) and micro-RNAs (miRs), which bind to specific cisacting elements or structures within mRNAs. Through this binding mechanism, trans-acting factors, particularly RBPs, control all aspects of mRNA metabolism, ranging from altering the transcription rate to mediating mRNA degradation. In this context the best-characterized neuronal RBP, the Hu/ELAVl family member HuD, is emerging as a key component in multiple regulatory processes-including pre-mRNA processing, mRNA stability, and translation-governing the fate of a substantial amount of neuronal mRNAs. Through its ability to regulate mRNA metabolism of diverse groups of functionally similar genes, HuD plays important roles in neuronal development and function. Furthermore, compelling evidence indicates supplementary roles for HuD in neuronal plasticity, in particular, recovery from axonal injury, learning and memory, and multiple neurological diseases. The purpose of this review is to provide a detailed overview of the current knowledge surrounding the expression and roles of HuD in the nervous system. Additionally, we outline the present understanding of the molecular mechanisms presiding over the localization, abundance, and function of HuD in neurons.

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Replication of association between ELAVL4 and Parkinson disease: the GenePD study

Cited by 33 publications

References 14 publications

Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons

Post-transcriptional regulatory elements and spatiotemporal specification of neocortical stem cells and projection neurons

Epidemiology and etiology of Parkinson’s disease: a review of the evidence

Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction

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