We are analyzing https://link.springer.com/article/10.1007/s00439-004-1199-2.

Title:
Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A | Human Genetics
Description:
Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {📚}

Science
Education
Technology & Computing

Content Management System {📝}

What CMS is link.springer.com built with?

Custom-built

No common CMS systems were detected on Link.springer.com, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of link.springer.com audience?

🌠 Phenomenal Traffic: 5M - 10M visitors per month

Based on our best estimate, this website will receive around 5,000,019 visitors per month in the current month.
However, some sources were not loaded, we suggest to reload the page to get complete results.

check SE Ranking
check Ahrefs
check Similarweb
check Ubersuggest
check Semrush

How Does Link.springer.com Make Money? {💸}

We can't figure out the monetization strategy.

Some websites aren't about earning revenue; they're built to connect communities or raise awareness. There are numerous motivations behind creating websites. This might be one of them. Link.springer.com could be secretly minting cash, but we can't detect the process.

Keywords {🔍}

article, mitochondrial, pubmed, google, scholar, cas, charcotmarietooth, type, disease, genet, mutation, japan, gtpase, gene, mitofusin, neuropathy, mutations, mfn, access, hum, department, hayasaka, neurology, privacy, cookies, content, research, cmt, axonal, fusion, motor, evgrafov, van, jonghe, timmerman, publish, search, human, kijima, numakura, chromosome, protein, network, patients, open, cell, dadali, polyakov, maps, yamagata,

Topics {✒️}

axonal charcot–marie–tooth disease charcot–marie-tooth disease month download article/chapter mitochondrial network architecture mfn2 variants linked mitochondrial transmembrane gtpase microtubule motor kif1bbeta gtpase domain related subjects dejerine-sottas disease full article pdf transmembrane gtpase fzo privacy choices/manage cookies mitochondrial network hereditary motor de novo mutation myelin p0 gene neurofilament-light gene hospital medical center teikyo university school human mitofusin-2 human mitofusin european economic area coiled-coil domains lee-lin sq regulatory mechanism altered ubiquitous mammalian homologs check access instant access kiyoshi hayasaka chromosome 1p35–p36 chromosome 7q11–q21 chromosome 12q12–q13 conditions privacy policy yamagata university school national center hospital article kijima pericak-vance ma mitochondrial fusion van den bosch accepting optional cookies axonal forms saiseikai hiroshima hospital author information authors article log main content log mitochondrial targeting mitochondrial metabolism mitochondrial morphology coe research

Schema {🗺️}

WebPage:
      mainEntity:
         headline:Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
         description:Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.
         datePublished:2004-11-11T00:00:00Z
         dateModified:2004-11-11T00:00:00Z
         pageStart:23
         pageEnd:27
         sameAs:https://doi.org/10.1007/s00439-004-1199-2
         keywords:
            Mitochondrial Network
            Tooth Disease
            GTPase Domain
            Axonal Form
            K357N Mutation
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
         image:
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-004-1199-2/MediaObjects/s00439-004-1199-2flb1.tif
            https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-004-1199-2/MediaObjects/s00439-004-1199-2flb2.tif
         isPartOf:
            name:Human Genetics
            issn:
               1432-1203
               0340-6717
            volumeNumber:116
            type:
               Periodical
               PublicationVolume
         publisher:
            name:Springer-Verlag
            logo:
               url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
               type:ImageObject
            type:Organization
         author:
               name:Kazuki Kijima
               affiliation:
                     name:Yamagata University School of Medicine
                     address:
                        name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Chikahiko Numakura
               affiliation:
                     name:Yamagata University School of Medicine
                     address:
                        name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Hiroko Izumino
               affiliation:
                     name:Yamagata University School of Medicine
                     address:
                        name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Kazuo Umetsu
               affiliation:
                     name:Yamagata University School of Medicine
                     address:
                        name:Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Atsuo Nezu
               affiliation:
                     name:Yokohama City University Medical Center
                     address:
                        name:Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Toshihide Shiiki
               affiliation:
                     name:Tokyo Children’s Habilitation Hospital
                     address:
                        name:Tokyo Children’s Habilitation Hospital, Tokyo, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Masafumi Ogawa
               affiliation:
                     name:National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry
                     address:
                        name:Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Yoshito Ishizaki
               affiliation:
                     name:Fukuoka Children’s Hospital Medical Center
                     address:
                        name:Department of Pediatric Neurology, Fukuoka Children’s Hospital Medical Center, Fukuoka, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Takeshi Kitamura
               affiliation:
                     name:Saiseikai Hiroshima Hospital
                     address:
                        name:Department of Neurology, Saiseikai Hiroshima Hospital, Hiroshima, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Yasunobu Shozawa
               affiliation:
                     name:Teikyo University School of Medicine
                     address:
                        name:Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
                        type:PostalAddress
                     type:Organization
               type:Person
               name:Kiyoshi Hayasaka
               affiliation:
                     name:Yamagata University School of Medicine
                     address:
                        name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                        type:PostalAddress
                     type:Organization
               email:[email protected]
               type:Person
         isAccessibleForFree:
         hasPart:
            isAccessibleForFree:
            cssSelector:.main-content
            type:WebPageElement
         type:ScholarlyArticle
      context:https://schema.org
ScholarlyArticle:
      headline:Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
      description:Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.
      datePublished:2004-11-11T00:00:00Z
      dateModified:2004-11-11T00:00:00Z
      pageStart:23
      pageEnd:27
      sameAs:https://doi.org/10.1007/s00439-004-1199-2
      keywords:
         Mitochondrial Network
         Tooth Disease
         GTPase Domain
         Axonal Form
         K357N Mutation
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
      image:
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-004-1199-2/MediaObjects/s00439-004-1199-2flb1.tif
         https://media.springernature.com/lw1200/springer-static/image/art%3A10.1007%2Fs00439-004-1199-2/MediaObjects/s00439-004-1199-2flb2.tif
      isPartOf:
         name:Human Genetics
         issn:
            1432-1203
            0340-6717
         volumeNumber:116
         type:
            Periodical
            PublicationVolume
      publisher:
         name:Springer-Verlag
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Kazuki Kijima
            affiliation:
                  name:Yamagata University School of Medicine
                  address:
                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Chikahiko Numakura
            affiliation:
                  name:Yamagata University School of Medicine
                  address:
                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Hiroko Izumino
            affiliation:
                  name:Yamagata University School of Medicine
                  address:
                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Kazuo Umetsu
            affiliation:
                  name:Yamagata University School of Medicine
                  address:
                     name:Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Atsuo Nezu
            affiliation:
                  name:Yokohama City University Medical Center
                  address:
                     name:Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Toshihide Shiiki
            affiliation:
                  name:Tokyo Children’s Habilitation Hospital
                  address:
                     name:Tokyo Children’s Habilitation Hospital, Tokyo, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Masafumi Ogawa
            affiliation:
                  name:National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry
                  address:
                     name:Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Yoshito Ishizaki
            affiliation:
                  name:Fukuoka Children’s Hospital Medical Center
                  address:
                     name:Department of Pediatric Neurology, Fukuoka Children’s Hospital Medical Center, Fukuoka, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Takeshi Kitamura
            affiliation:
                  name:Saiseikai Hiroshima Hospital
                  address:
                     name:Department of Neurology, Saiseikai Hiroshima Hospital, Hiroshima, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Yasunobu Shozawa
            affiliation:
                  name:Teikyo University School of Medicine
                  address:
                     name:Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Kiyoshi Hayasaka
            affiliation:
                  name:Yamagata University School of Medicine
                  address:
                     name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      isAccessibleForFree:
      hasPart:
         isAccessibleForFree:
         cssSelector:.main-content
         type:WebPageElement
["Periodical","PublicationVolume"]:
      name:Human Genetics
      issn:
         1432-1203
         0340-6717
      volumeNumber:116
Organization:
      name:Springer-Verlag
      logo:
         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
         type:ImageObject
      name:Yamagata University School of Medicine
      address:
         name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
         type:PostalAddress
      name:Yamagata University School of Medicine
      address:
         name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
         type:PostalAddress
      name:Yamagata University School of Medicine
      address:
         name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
         type:PostalAddress
      name:Yamagata University School of Medicine
      address:
         name:Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
         type:PostalAddress
      name:Yokohama City University Medical Center
      address:
         name:Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan
         type:PostalAddress
      name:Tokyo Children’s Habilitation Hospital
      address:
         name:Tokyo Children’s Habilitation Hospital, Tokyo, Japan
         type:PostalAddress
      name:National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry
      address:
         name:Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
         type:PostalAddress
      name:Fukuoka Children’s Hospital Medical Center
      address:
         name:Department of Pediatric Neurology, Fukuoka Children’s Hospital Medical Center, Fukuoka, Japan
         type:PostalAddress
      name:Saiseikai Hiroshima Hospital
      address:
         name:Department of Neurology, Saiseikai Hiroshima Hospital, Hiroshima, Japan
         type:PostalAddress
      name:Teikyo University School of Medicine
      address:
         name:Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
         type:PostalAddress
      name:Yamagata University School of Medicine
      address:
         name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
         type:PostalAddress
ImageObject:
      url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
Person:
      name:Kazuki Kijima
      affiliation:
            name:Yamagata University School of Medicine
            address:
               name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
               type:PostalAddress
            type:Organization
      name:Chikahiko Numakura
      affiliation:
            name:Yamagata University School of Medicine
            address:
               name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
               type:PostalAddress
            type:Organization
      name:Hiroko Izumino
      affiliation:
            name:Yamagata University School of Medicine
            address:
               name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
               type:PostalAddress
            type:Organization
      name:Kazuo Umetsu
      affiliation:
            name:Yamagata University School of Medicine
            address:
               name:Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
               type:PostalAddress
            type:Organization
      name:Atsuo Nezu
      affiliation:
            name:Yokohama City University Medical Center
            address:
               name:Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan
               type:PostalAddress
            type:Organization
      name:Toshihide Shiiki
      affiliation:
            name:Tokyo Children’s Habilitation Hospital
            address:
               name:Tokyo Children’s Habilitation Hospital, Tokyo, Japan
               type:PostalAddress
            type:Organization
      name:Masafumi Ogawa
      affiliation:
            name:National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry
            address:
               name:Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
               type:PostalAddress
            type:Organization
      name:Yoshito Ishizaki
      affiliation:
            name:Fukuoka Children’s Hospital Medical Center
            address:
               name:Department of Pediatric Neurology, Fukuoka Children’s Hospital Medical Center, Fukuoka, Japan
               type:PostalAddress
            type:Organization
      name:Takeshi Kitamura
      affiliation:
            name:Saiseikai Hiroshima Hospital
            address:
               name:Department of Neurology, Saiseikai Hiroshima Hospital, Hiroshima, Japan
               type:PostalAddress
            type:Organization
      name:Yasunobu Shozawa
      affiliation:
            name:Teikyo University School of Medicine
            address:
               name:Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
               type:PostalAddress
            type:Organization
      name:Kiyoshi Hayasaka
      affiliation:
            name:Yamagata University School of Medicine
            address:
               name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
      name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
      name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
      name:Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan
      name:Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan
      name:Tokyo Children’s Habilitation Hospital, Tokyo, Japan
      name:Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
      name:Department of Pediatric Neurology, Fukuoka Children’s Hospital Medical Center, Fukuoka, Japan
      name:Department of Neurology, Saiseikai Hiroshima Hospital, Hiroshima, Japan
      name:Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
      name:Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
WebPageElement:
      isAccessibleForFree:
      cssSelector:.main-content

External Links {🔗}(92)

Analytics and Tracking {📊}

Google Tag Manager

Libraries {📚}

Clipboard.js
Prism.js

CDN Services {📦}

Crossref

4.44s.

LINK . SPRINGER . COM {}