Congenital Fibrosis of the Extraocular Muscles

Heidary, Gena; Engle, Elizabeth C.; Hunter, David G.

doi:10.1080/08820530701745181

Cited by 72 publications

(61 citation statements)

References 27 publications

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“…The expression level of KIF21A is high in axon-rich tissues similar to KIF3A and nKHC, molecules known to participate in axonal transport (Marszalek et al, 1999;Hirokawa et al, 2010;Silverman et al, 2010). Point mutations in KIF21A were found in patients of congenital cranial dysinnervation disorders (Yamada et al, 2003;Heidary et al, 2008). Although the genetic disorder implies that KIF21A is involved in axonal transport, no neuronspecific cargo of KIF21A has been identified.…”

Section: Introductionmentioning

confidence: 98%

KIF21A-Mediated Axonal Transport and Selective Endocytosis Underlie the Polarized Targeting of NCKX2

Lee¹,

Lee²,

Lee³

et al. 2012

J. Neurosci.

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We have previously shown that K ϩ -dependent Na ϩ /Ca 2ϩ exchanger (NCKX) is a major calcium clearance mechanism at the large axon terminals of central neurons, whereas their somata display little NCKX activity. We investigated mechanisms underlying the axonal polarization of NCKX2 in rat hippocampal neurons. We identified NCKX2 as the first neuron-specific cargo molecule of kinesin family member 21A (KIF21A). The intracellular loop of NCKX2 specifically interacted with the WD-40 repeats, a putative cargo-binding domain, of KIF21A. Dominant-negative mutant or depletion of KIF21A inhibited the transport of NCKX2-GFP to axon fibers. Knockdown of KIF21A caused calcium dysregulation at axonal boutons but not at somatodendritic regions. Despite the axonal polarization of the NCKX activity, both somatodendritic and axonal regions were immunoreactive to NCKX2. The surface expression of NCKX2 revealed by live-cell immunocytochemistry, however, displayed highly polarized distribution to the axon. Inhibition of endocytosis increased the somatodendritic surface NCKX2 and thus abolished the axonal polarization of surface NCKX2. These results indicate that KIF21A-mediated axonal transport and selective somatodendritic endocytosis underlie the axonal polarized surface expression of NCKX2.

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Section: Introductionmentioning

confidence: 98%

KIF21A-Mediated Axonal Transport and Selective Endocytosis Underlie the Polarized Targeting of NCKX2

Lee¹,

Lee²,

Lee³

et al. 2012

J. Neurosci.

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“…Kapak pitozu ve göz hareketlerindeki kısıtlılık nedeniyle ambliyopi riski yüksektir. 5,6 Bazı olgularda sıçrayıcı göz hareketleri, nistagmus benzeri hareketler ve MarcusGunn çene göz açılması sendromu bildirilmiştir. 7,8 KEOKF 1 olguları genellikle normal fiziksel ve bilişsel gelişim gösterirler.…”

Section: Keokfunclassified

“…Sinir hücrelerinde önemli rolü olan KIF21A geninin mutasyonun saptanması, KEOKF 1'in sinir gelişimindeki bir bozukluktan kaynaklandığı teorisini desteklemektedir. 5,15 …”

Section: Keokfunclassified

“…Hastalığın otozomal resesif geçişli olduğu ve mutasyonun 11q13 bölgesinde olduğu gösterilmiştir. 5,21 Bu bölgedeki ARIX/ PHOX2A geninde işlev kaybına neden olan mutasyonlar KEOKF 2 sendromunun gelişmesine sebep olmaktadır. PHOX2A geni, 3. ve 4. kraniyal sinirlerin gelişiminde önemli rol oynayan homeodomain transkripsiyon faktörü Phox2a'yı kodlamaktadır.…”

Section: Keokfunclassified

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Konjenital Ekstraoküler Kas Fibrozisi

Niyaz¹,

Can²

2014

tjo

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Konjenital ekstraoküler kas fibrozisi (KEOKF) nadir görülen kalıtsal ve ilerleyici olmayan restriktif şaşılık ve kapak pitozu ile karakterize bir durumdur. Olguların çoğu iki taraflı ve izole olmasına rağmen bazı olgularda sistemik bulgular eşlik etmektedir. Klinik görünüm olarak KEOKF üç gruba ayrılmaktadır: KEOKF 1, 2 ve 3. Başlıca sorumlu genler KEOKF tip 1 ve 3 için KIF21A ve KEOKF tip 2 için PHOX2A/ARIX genleridir. Çalışmalar, kas fibrozisine ekstraoküler kasların anormal innervasyonunun neden olduğunu göstermektedir. ÖzetCongenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5)

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“…Congential fibrosis of extraocular muscles (CFEOM), a rare hereditary eye-movement disorder with prevalence of 1/230,000 (1), is characterized by non-progressive restrictive external ophthalmoplegia and ptosis caused by hypotropia of cranial neurons that are related to ocular motility and its corresponding nerves (2,3). CFEOM sometimes accompanies progressive cerebellar ataxia, epilepsy caused by central nervous system malformation, psychomotor retardation, and muscle hypotonia.…”

Section: Introductionmentioning

confidence: 99%