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• W4288808051 abstract "Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known as tubulinopathies, are a group of recently described entities that lead to complex brain malformations. Anatomical and functional consequences of the disruption of tubulins include microcephaly, combined with abnormal corticogenesis due to impaired migration or lamination and abnormal growth cone dynamics of projecting and callosal axons. Key imaging features of tubulinopathies are characterized by three major patterns of malformations of cortical development (MCD): lissencephaly, microlissencephaly, and dysgyria. Additional distinctive MRI features include dysmorphism of the basal ganglia, midline commissural structure hypoplasia or agenesis, and cerebellar and brainstem hypoplasia. Tubulinopathies can be diagnosed as early as 21-24 gestational weeks using imaging and neuropathology, with possible extreme microlissencephaly with an extremely thin cortex, lissencephaly with either thick or thin/intermediate cortex, and dysgyria combined with cerebellar hypoplasia, pons hypoplasia and corpus callosum dysgenesis. More than 100 MCD-associated mutations have been reported in TUBA1A, TUBB2B, or TUBB3 genes, whereas fewer than ten are known in other genes such TUBB2A, TUBB or TUBG1. Although these mutations are scattered along the α- and β-tubulin sequences, recurrent mutations are consistently associated with almost identical cortical dysgenesis. Much of the evidence supports that these mutations alter the dynamic properties and functions of microtubules in several fashions. These include diminishing the abundance of functional tubulin heterodimers, altering GTP binding, altering longitudinal and lateral protofilament interactions, and impairing microtubule interactions with kinesin and/or dynein motors or with MAPs. In this review we discuss the recent advances in our understanding of the effects of mutations of tubulins and microtubule-associated proteins on human brain development and the pathogenesis of malformations of cortical development." @default.
• W4288808051 created "2022-07-30" @default.
• W4288808051 creator A5040278375 @default.
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• W4288808051 date "2023-03-01" @default.
• W4288808051 modified "2023-10-16" @default.
• W4288808051 title "Tubulin mutations in human neurodevelopmental disorders" @default.
• W4288808051 cites W1503727145 @default.
• W4288808051 cites W1557022847 @default.
• W4288808051 cites W1736626140 @default.
• W4288808051 cites W1965404941 @default.
• W4288808051 cites W1966945529 @default.
• W4288808051 cites W1970579968 @default.
• W4288808051 cites W1991582836 @default.
• W4288808051 cites W1992502425 @default.
• W4288808051 cites W1994345832 @default.
• W4288808051 cites W2001171236 @default.
• W4288808051 cites W2005215757 @default.
• W4288808051 cites W2006991902 @default.
• W4288808051 cites W2008578910 @default.
• W4288808051 cites W2017503582 @default.
• W4288808051 cites W2028636372 @default.
• W4288808051 cites W2029057463 @default.
• W4288808051 cites W2043204105 @default.
• W4288808051 cites W2047172949 @default.
• W4288808051 cites W2049924082 @default.
• W4288808051 cites W2052309340 @default.
• W4288808051 cites W2055725352 @default.
• W4288808051 cites W2056293774 @default.
• W4288808051 cites W2064678751 @default.
• W4288808051 cites W2073409201 @default.
• W4288808051 cites W2074049761 @default.
• W4288808051 cites W2074091738 @default.
• W4288808051 cites W2090580770 @default.
• W4288808051 cites W2091407133 @default.
• W4288808051 cites W2092847253 @default.
• W4288808051 cites W2093617291 @default.
• W4288808051 cites W2098677966 @default.
• W4288808051 cites W2108640920 @default.
• W4288808051 cites W2112008831 @default.
• W4288808051 cites W2114643223 @default.
• W4288808051 cites W2115137207 @default.
• W4288808051 cites W2116387519 @default.
• W4288808051 cites W2119893163 @default.
• W4288808051 cites W2124428005 @default.
• W4288808051 cites W2126472790 @default.
• W4288808051 cites W2138304538 @default.
• W4288808051 cites W2139330091 @default.
• W4288808051 cites W2149695265 @default.
• W4288808051 cites W2154172280 @default.
• W4288808051 cites W2154599827 @default.
• W4288808051 cites W2154934792 @default.
• W4288808051 cites W2157319245 @default.
• W4288808051 cites W2161852533 @default.
• W4288808051 cites W2162275615 @default.
• W4288808051 cites W2162785195 @default.
• W4288808051 cites W2163901200 @default.
• W4288808051 cites W2171905664 @default.
• W4288808051 cites W2172731699 @default.
• W4288808051 cites W2195509724 @default.
• W4288808051 cites W2219121912 @default.
• W4288808051 cites W2255163678 @default.
• W4288808051 cites W2274003852 @default.
• W4288808051 cites W2274416501 @default.
• W4288808051 cites W2276736055 @default.
• W4288808051 cites W2284572136 @default.
• W4288808051 cites W2289246536 @default.
• W4288808051 cites W2591669685 @default.
• W4288808051 cites W2608180135 @default.
• W4288808051 cites W2732638701 @default.
• W4288808051 cites W2799494015 @default.
• W4288808051 cites W2800287140 @default.
• W4288808051 cites W2803079609 @default.
• W4288808051 cites W2883979800 @default.
• W4288808051 cites W2887675464 @default.
• W4288808051 cites W2893980705 @default.
• W4288808051 cites W2953678915 @default.
• W4288808051 cites W2978435494 @default.
• W4288808051 cites W3007078842 @default.
• W4288808051 cites W3009242800 @default.
• W4288808051 cites W3009626551 @default.
• W4288808051 cites W3015849867 @default.
• W4288808051 cites W3037534109 @default.
• W4288808051 cites W3038929236 @default.
• W4288808051 cites W3048371187 @default.
• W4288808051 cites W3093003121 @default.
• W4288808051 cites W3094536947 @default.
• W4288808051 cites W3113111354 @default.
• W4288808051 cites W3133910058 @default.
• W4288808051 cites W3199337740 @default.
• W4288808051 cites W3206504255 @default.
• W4288808051 doi "https://doi.org/10.1016/j.semcdb.2022.07.009" @default.
• W4288808051 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35915025" @default.

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