Results 101 to 110 of about 1,886 (182)

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

The EMBO Journal
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan ...
Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Charlotte R Marchioni, Mitchell A Sullivan, Xiaochu Zhao, Peixiang Wang, Howard Mount, Mayank Verma, Berge A Minassian, Felix Nitschke   +12 more
doaj   +1 more source

Retinal Phenotyping of a Murine Model of Lafora Disease. [PDF]

Genes (Basel), 2023
Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA.   +6 more
europepmc   +1 more source

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease. [PDF]

Mol Genet Genomic Med, 2023
Sun Y, Zhou Z, Wang Q, Yan J, Zhang Z, Cui T.   +5 more
europepmc   +1 more source

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease. [PDF]

Front Neurol, 2023
d'Orsi G, Farolfi A, Muccioli L, Palumbo O, Palumbo P, Modoni S, Allegri V, Garibotto V, Di Claudio MT, Di Muro E, Benvenuto M, Bisulli F, Carella M.   +12 more
europepmc   +1 more source

Glial Contributions to Lafora Disease: A Systematic Review. [PDF]

Biomedicines, 2022
Della Vecchia S, Marchese M, Santorelli FM.   +2 more
europepmc   +1 more source

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease. [PDF]

Genes (Basel)
Allegri L, Baldan F, Mio C, Imperatore V, Costa C, Prontera P, Bisulli F, Muccioli L, Damante G.   +8 more
europepmc   +1 more source

Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model. [PDF]

Neurotherapeutics, 2023
Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS.   +15 more
europepmc   +1 more source

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data. [PDF]

Orphanet J Rare Dis, 2023
Pondrelli F, Minardi R, Muccioli L, Zenesini C, Vignatelli L, Licchetta L, Mostacci B, Tinuper P, Vander Kooi CW, Gentry MS, Bisulli F.   +10 more
europepmc   +1 more source

When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease. [PDF]

Neurotherapeutics
Riva A, Striano P.
europepmc   +1 more source

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report. [PDF]

Cureus
Pejanovic-Skobic N, Demirovic S, Boban Raguz A, Bender M, Batinic D, Pravdic N.   +5 more
europepmc   +1 more source