The missense mutation C667F in murine β-dystroglycan causes
embryonic lethality, myopathy and blood-brain barrier
destabilization

Rui Lois Tan; Francesca Sciandra; Wolfgang Hübner; Manuela Bozzi; Jens Reimann; Susanne Schoch; Andrea Brancaccio; Sandra Blaess

doi:10.1242/dmm.050594

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization

Rui Lois Tan, Francesca Sciandra, Wolfgang Hübner, Manuela Bozzi, Jens Reimann, Susanne Schoch, Andrea Brancaccio^*, Sandra Blaess

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	DISEASE MODELS & MECHANISMS
Volume	17
DOI	https://doi.org/10.1242/dmm.050594
Stato di pubblicazione	Pubblicato - 2024

Keywords

Aquaporin 4, Blood-brain barrier, Dystroglycan, Dystroglycanopathies, Missense mutation, Myopathy

Accesso al documento

10.1242/dmm.050594

Altri file e collegamenti

Open Access link a IRIS PubliCatt

Cita questo

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title = "The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization",

keywords = "Aquaporin 4, Blood-brain barrier, Dystroglycan, Dystroglycanopathies, Missense mutation, Myopathy, Aquaporin 4, Blood-brain barrier, Dystroglycan, Dystroglycanopathies, Missense mutation, Myopathy",

author = "Tan, {Rui Lois} and Francesca Sciandra and Wolfgang H{\"u}bner and Manuela Bozzi and Jens Reimann and Susanne Schoch and Andrea Brancaccio and Sandra Blaess",

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doi = "10.1242/dmm.050594",

language = "English",

volume = "17",

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T1 - The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization

AU - Tan, Rui Lois

AU - Sciandra, Francesca

AU - Hübner, Wolfgang

AU - Bozzi, Manuela

AU - Reimann, Jens

AU - Schoch, Susanne

AU - Brancaccio, Andrea

AU - Blaess, Sandra

PY - 2024

Y1 - 2024

KW - Aquaporin 4, Blood-brain barrier, Dystroglycan, Dystroglycanopathies, Missense mutation, Myopathy

UR - http://hdl.handle.net/10807/272877

U2 - 10.1242/dmm.050594

DO - 10.1242/dmm.050594

M3 - Article

SN - 1754-8403

VL - 17

SP - N/A-N/A

JO - DISEASE MODELS & MECHANISMS

JF - DISEASE MODELS & MECHANISMS

ER -