Expression of genes related to muscular dystrophy with lissencephaly

Yamamoto, Tomoko; Kato, Yoichiro; Karita, Mizuho; Kawaguchi, Motoko; Shibata, Noriyuki; Kobayashi, Makio

doi:10.1016/j.pediatrneurol.2004.03.020

Cited by 26 publications

(29 citation statements)

References 30 publications

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“…45 By in situ hybridization using digoxigeninlabaled probes, localization of fukutin, POMGnT1, and POMT1 is almost the same in fetal CNS tissues (Fig. 6).…”

Section: Fukutin Pomgnt1 and Pomt1 Expression In Control Cnsmentioning

confidence: 90%

“…6). 45,46 They are positive in many immature neurons including cerebral and cerebellar cortices and germinal matrix. Purkinje cells and spinal cord neurons are positive.…”

Section: Fukutin Pomgnt1 and Pomt1 Expression In Control Cnsmentioning

confidence: 99%

“…45,46 By using an anti-α-dystroglycan antibody detecting glycosylated areas (IIH6C4, monoclonal; Upstate Biotechnology, Lake Placid, NY, USA), 42 positive reaction is observed in the glia limitans and capillaries. However, in FCMD cases, there is reduced staining for both fukutin and α-dystroglycan (Fig.…”

Section: Decrease Of Fukutin and Glycosylated α-Dystroglycan In The Cmentioning

confidence: 99%

“…Fukutin, POMGnT1, and POMT1 were expressed in immature neurons, 45,46 suggesting that they are also involved in the neuronal migration itself. WWS is generally a severe disease among FCMD, MEB, and WWS.…”

Section: Predicted Functions Of Fukutinmentioning

confidence: 99%

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Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

Yamamoto

Kato

Kawaguchi

et al. 2004

Med Electron Microsc

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Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are congenital muscular dystrophies associated with central nervous system (CNS) lesions, represented by cobblestone lissencephaly and eye anomalies. The glia limitans, formed by astrocytic endfeet and covered with the basement membrane, is disrupted in fetal cases of these diseases. A gene responsible for FCMD is fukutin and that for MEB is protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1). Mutations in protein-O-mannosyltransferase 1 (POMT1) have been found in some WWS cases. POMGnT1 and POMT1 are involved in glycosylation of alpha-dystroglycan, which is one of the components of dystrophin-glycoprotein complex, linking dystrophin and extracellular matrix proteins at the basement membrane. Fukutin seems to have similar functions to those of POMGnT1 and POMT1, but its functions still remain to be clarified. In situ hybridization reveals that fukutin, POMGnT1, and POMT1 are expressed especially in astrocytes. Decrease of glycosylated alpha-dystroglycan has been reported in the skeletal muscle of FCMD, MEB, and WWS. Moreover, decrease of fukutin and glycosylated alpha-dystroglycan is observed in the brain of FCMD cases. Because astrocytes are involved in basement membrane formation at the glia limitans, fukutin, POMGnT1, and POMT1 are considered to relate to the pathogenesis of CNS lesions, and fukutin may be related to glycosylation of alpha-dystroglycan. Fukutin, POMGnT1, and POMT1 are expressed in immature neurons, suggesting they are also involved in neuronal migration itself. POMGnT1 and POMT1 are expressed in many mature neurons, but fukutin is positive in a few mature neurons. FCMD is a rather mild disease among FCMD, MEB, and WWS, and POMGnT1 and POMT1 seems to have more critical roles compared to fukutin in mature neurons.

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“…45 By in situ hybridization using digoxigeninlabaled probes, localization of fukutin, POMGnT1, and POMT1 is almost the same in fetal CNS tissues (Fig. 6).…”

Section: Fukutin Pomgnt1 and Pomt1 Expression In Control Cnsmentioning

confidence: 90%

“…6). 45,46 They are positive in many immature neurons including cerebral and cerebellar cortices and germinal matrix. Purkinje cells and spinal cord neurons are positive.…”

Section: Fukutin Pomgnt1 and Pomt1 Expression In Control Cnsmentioning

confidence: 99%

Section: Decrease Of Fukutin and Glycosylated α-Dystroglycan In The Cmentioning

confidence: 99%

Section: Predicted Functions Of Fukutinmentioning

confidence: 99%

See 2 more Smart Citations

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

Yamamoto

Kato

Kawaguchi

et al. 2004

Med Electron Microsc

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“…This may be achieved through an integrated approach involving gene expression studies (geneST arrays) and protein antibody arrays. GeneST arrays are expected to give global muscle expression profile and indicate the variability in gene expression by identifying the up and down regulated genes (Vachon, Loechel et al 1996;Tsao and Mendell 1999;Yamamoto, Kato et al 2004;Wakayama, Inoue et al 2008). Also active patient registries should be maintained for each disease type to provide ready access to a pool of information including clinical presentations and causative mutations.…”

Section: Summary and Future Directionsmentioning

confidence: 99%

Advances in Molecular Analysis of Muscular Dystrophies

Ankala¹,

Hegde²

2012

Muscular Dystrophy

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Structure-function relationship of the mammarenavirus envelope glycoprotein

et al. 2016

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Mammarenaviruses, including lethal pathogens such as Lassa virus and Junín virus, can cause severe hemorrhagic fever in humans. Entry is a key step for virus infection, which starts with binding of the envelope glycoprotein (GP) to receptors on target cells and subsequent fusion of the virus with target cell membranes. The GP precursor is synthesized as a polypeptide, and maturation occurs by two cleavage events, yielding a tripartite GP complex (GPC) formed by a stable signal peptide (SSP), GP1 and GP2. The unique retained SSP interacts with GP2 and plays essential roles in virion maturation and infectivity. GP1 is responsible for binding to the cell receptor, and GP2 is a class I fusion protein. The native structure of the tripartite GPC is unknown. GPC is critical for the receptor binding, membrane fusion and neutralization antibody recognition. Elucidating the molecular mechanisms underlining the structure-function relationship of the three subunits is the key for understanding their function and can facilitate novel avenues for combating virus infections. This review summarizes the basic aspects and recent research of the structure-function relationship of the three subunits. We discuss the structural basis of the receptor-binding domain in GP1, the interaction between SSP and GP2 and its role in virion maturation and membrane fusion, as well as the mechanism by which glycosylation stabilizes the GPC structure and facilitates immune evasion. Understanding the molecular mechanisms involved in these aspects will contribute to the development of novel vaccines and treatment strategies against mammarenaviruses infection.

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Expression of genes related to muscular dystrophy with lissencephaly

Cited by 26 publications

References 30 publications

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin

Advances in Molecular Analysis of Muscular Dystrophies

Structure-function relationship of the mammarenavirus envelope glycoprotein

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