Results 11 to 20 of about 62,774 (200)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. [PDF]

Ann Neurol
Autosomal recessive cerebellar ataxias (ARCAs) represent over 200 clinically heterogeneous genetic conditions involving degeneration of the cerebellum and associated tracts with resultant impairment of balance and coordination.
Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M.   +10 more
europepmc   +4 more sources

Guaiacol as a drug candidate for treating adult polyglucosan body disease. [PDF]

JCI Insight, 2018
Adult polyglucosan body disease (APBD) is a late-onset disease caused by intracellular accumulation of polyglucosan bodies, formed due to glycogen-branching enzyme (GBE) deficiency. To find a treatment for APBD, we screened 1,700 FDA-approved compounds in fibroblasts derived from APBD-modeling GBE1-knockin mice.
Kakhlon O, Ferreira I, Solmesky LJ, Khazanov N, Lossos A, Alvarez R, Yetil D, Pampou S, Weil M, Senderowitz H, Escriba P, Yue WW, Akman HO.   +12 more
europepmc   +5 more sources

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China [PDF]

Genes and Diseases, 2023
Yikun Chen, Yan Shi, Yuan Gao, Yan Hu, Linying Zhou, Jingmei Hong, Shirui Gan, Xiang Lin, Wanjin Chen, Guorong Xu, Jin He   +10 more
doaj   +3 more sources

Characterisation of phenotypic patterns in equine exercise-associated myopathies. [PDF]

Equine Vet J
Background: Equine exercise-associated myopathies are prevalent, clinically heterogeneous, generally idiopathic disorders characterised by episodes of myofibre damage that occur in association with exercise.
Lindsay-McGee V, Massey C, Li YT, Clark EL, Psifidi A, Piercy RJ.   +5 more
europepmc   +5 more sources

Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models [PDF]

Neurotherapeutics, 2021
SummaryMany adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency and specificity hurdles. We apply CRISPR/Cas9 genome editing in its simplest modality, namely inducing gene sequence disruption, to one adult and one ...
Emrah Gumusgoz, Dikran R Guisso, Sahba Kasiri, Jun Wu, Matthew Dear, Brandy Verhalen, Silvia Nitschke, Sharmistha Mitra, Felix Nitschke, Berge A. Minassian   +9 more
openaire   +3 more sources

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Neurotherapeutics, 2022
Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme (GBE1) gene and is characterized by progressive upper and lower motor neuron dysfunction and premature death.
Gumusgoz, Emrah, Kasiri, Sahba, Guisso, Dikran R., Wu, Jun, Dear, Matthew, Verhalen, Brandy, Minassian, Berge A.   +6 more
semanticscholar   +4 more sources

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism [PDF]

EMBO Molecular Medicine
In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of ...
Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian   +4 more
doaj   +2 more sources

Distinct features in adult polyglucosan body disease: a case series

Neuromuscular Disorders, 2023
Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD.
De Winter, Jonathan, Cypers, Gert, Jacobs, Edwin, Bossche, Stephanie Vanden, Deconinck, Tine, De Ridder, Willem, Dekeyzer, Sven, Baets, Jonathan   +7 more
openaire   +4 more sources

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

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   +2 more sources

Adult polyglucosan body disease associated with an extrapyramidal syndrome. [PDF]

J Neurol Neurosurg Psychiatry, 1998
A 50 year old patient is described who presented with parkinsonism, frontal dementia, peripheral neuropathy, neurogenic bladder, and upper motor neuron signs. No improvement in objective measurements of extrapyramidal dysfunction were seen with an incremental apomorphine test or more prolonged oral dopamine challenge.
Robertson NP, Wharton S, Anderson J, Scolding NJ.   +3 more
europepmc   +4 more sources