Intracellular binding of fukutin and α-dystroglycan: Relation to glycosylation of α-dystroglycan

Yamamoto, Tomoko; Kawaguchi, Motoko; Sakayori, Noriko; Muramatsu, Fumiaki; Morikawa, Shunichi; Kato, Yoichiro; Shibata, Noriyuki; Kobayashi, Makio

doi:10.1016/j.neures.2006.08.009

Cited by 11 publications

(12 citation statements)

References 36 publications

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“…others reported that FKrP and fukutin are localized subcellularly in the medial-Golgi apparatus 23,24 but that the mutations in the FKrP gene would lead to endoplasmic reticulum retention and consequent diminution in the Golgi apparatus 24 . According to yamamoto et al 25 , although the functions of fukutin continue unclear, it seems to interact with alpha-DG during glycosylation but binding to the core area of alpha-DG instead of its sugar chain. Also concerning FKrP, it has recently been supposed that in normal and mutant mice it is detected in the sarcollema and coexists with DG in the native dystrophin-glycoprotein complex, perhaps having its localization mediated by DG 26 .…”

Section: Fig 1 Schematic Representation Of the Main Proteins Involvementioning

confidence: 99%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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-The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscleeye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.Key WorDs: congenital muscular dystrophy, MDC1A, collagen VI related disorders, glycosylation of alphadystroglycan, Fukuyama DMC, muscle-eye-brain (MeB) disease, Walker-Warburg syndrome, rigid spine syndrome. distrofia muscular congênita. parte ii: revisão da patogênese e perspectivas terapêuticas resumo -As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. são caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. o quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MeB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.PAlAVrAs-ChAVes: distrofia muscular congênita, merosina, colágeno VI, glicosila...

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Section: Fig 1 Schematic Representation Of the Main Proteins Involvementioning

confidence: 99%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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“…Because astrocytes are a critical element of the blood brain barrier (BBB) (168), it is possible that the virus gains access from the blood stream into these cells through astrocytic foot processes that comprise the second layer of the BBB. Additionally, astrocytic expression of the LCMV receptor, α-dystroglycan, may increase the ability of clone 13 to readily gain access to this cell type (169,170). Over time the virus moved throughout the astrocytic network, and complete inundation of the brain parenchyma was observed between days 30-60 post infection.…”

Section: Lcmv Clone 13 Infection and Clearance From The Cnsmentioning

confidence: 99%

Lymphocytic choriomeningitis infection of the central nervous system

Kang

McGavern

2008

Front Biosci

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Viral infection of the central nervous system (CNS) can result in a multitude of responses including pathology, persistence or immune clearance. Lymphocytic choriomeningitis virus (LCMV) is a powerful model system to explore these potential outcomes of CNS infection due to the diversity of responses that can be achieved after viral inoculation. Several factors including tropism, timing, dose and variant of LCMV in combination with the development or suppression of the corresponding immune response dictates whether lethal meningitis, chronic infection or clearance of LCMV in the CNS will occur. Importantly, the functionality and positioning of the LCMV-specific CD8 + T cell response are critical in directing the subsequent outcome of CNS LCMV infection. Although a basic understanding of LCMV and immune interactions in the brain exists, the molecular machinery that shapes the balance between pathogenesis and clearance in the LCMV-infected CNS remains to be elucidated. This review covers the various outcomes of LCMV infection in the CNS and what is currently known about the impact of the virus itself versus the immune response in the development of disease or clearance. KeywordsLCMV; Clone 13; Virus; Meningitis; Immunotherapy; Brain; Neurons; Astrocytes; Immunodeficient; Neonates; Growth Hormone; T cell; behavior; Review INTRODUCTIONThe parameters that dictate pathology versus clearance after CNS viral infection are relatively undefined. The CNS contains highly integrated populations of neurons and glial cells responsible for our livelihood, and immune infiltration has the potential to severely disrupt the function of this sensitive compartment. Consequently, through evolutionary pressures the CNS has become immunologically specialized and now possesses the ability to HHS Public AccessAuthor manuscript Front Biosci. Author manuscript; available in PMC 2017 January 30.Published in final edited form as:Front Biosci. ; 13: 4529-4543. Author Manuscript Author ManuscriptAuthor Manuscript Author Manuscript modulate (or suppress) leukocyte behavior in a manner that fundamentally differs from that observed in most peripheral tissues. This evolutionary acquisition, which is advantageous from the standpoint of host survival, likely facilitates the entry and replication of viruses within the CNS. A multitude of viruses have the capacity to gain access to the CNS and upon doing so can establish a chronic infection, drive immunopathology, or alter the function of residents cells, making clearance of the invading pathogen essential. Therefore, a fundamental knowledge of viral-immune interactions in the CNS is essential if we ultimately intend to therapeutically modulate CNS immune responses in humans to achieve viral clearance in the absence of immunopathology. LCMV infection of mice provides an outstanding model system to explore such interactions and extend the lessons learned to virus infections of humans. GENERAL BACKGROUND ON LCMVLCMV is a natural pathogen of both human and murine populations (1). Human transmissio...

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“…Because α- and β-DG generally co-localize, α-DG could also localize in the nucleus and cytoplasm of neurons. Because a binding of fukutin and α-DG is suggested [35], it is likely that fukutin has as of yet unknown distinctive functions that co-operate with α-DG. Since there is an alternative splicing in fukutin [10], nuclear and cytoplasmic staining might be derived from isoforms.…”

Section: Discussionmentioning

confidence: 99%

Roles of Fukutin, the Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy, in Neurons: Possible Involvement in Synaptic Function and Neuronal Migration

Hiroi

Yamamoto

Shibata

et al. 2011

Acta Histochem. Cytochem

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Fukutin is a gene responsible for Fukuyama-type congenital muscular dystrophy (FCMD), accompanying ocular and brain malformations represented by cobblestone lissencephaly. Fukutin is related to basement membrane formation via the glycosylation of α-dystoglycan (α-DG), and astrocytes play a crucial role in the pathogenesis of the brain lesion. On the other hand, its precise function in neurons is unknown. In this experiment, the roles of fukutin in mature and immature neurons were examined using brains from control subjects and FCMD patients and cultured neuronal cell lines. In quantitative PCR, the expression level of fukutin looked different depending on the region of the brain examined. A similar tendency in DG expression appears to indicate a relation between fukutin and α-DG in mature neurons. An increase of DG mRNA and core α-DG in the FCMD cerebrum also supports the relation. In immunohistochemistry, dot-like positive reactions for VIA4-1, one of the antibodies detecting the glycosylated α-DG, in Purkinje cells suggest that fukutin is related to at least a post-synaptic function via the glycosylation of α-DG. As for immature neurons, VIA4-1 was predominantly positive in cells before and during migration with expression of fukutin, which suggest a participation of fukutin in neuronal migration via the glycosylation of α-DG. Moreover, fukutin may prevent neuronal differentiation, because its expression was significantly lower in the adult cerebrum and in differentiated cultured cells. A knockdown of fukutin was considered to induce differentiation in cultured cells. Fukutin seems to be necessary to keep migrating neurons immature during migration, and also to support migration via α-DG.

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Intracellular binding of fukutin and α-dystroglycan: Relation to glycosylation of α-dystroglycan

Cited by 11 publications

References 36 publications

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Lymphocytic choriomeningitis infection of the central nervous system

Roles of Fukutin, the Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy, in Neurons: Possible Involvement in Synaptic Function and Neuronal Migration

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