Results 11 to 20 of about 8,964,539 (118)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz EA, Schwartz IVD, Maillot F.   +7 more
europepmc   +2 more sources

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

Ann Neurol
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
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   +2 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

Characterization of cognitive impairment in adult polyglucosan body disease. [PDF]

J Neurol, 2022
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M.   +7 more
europepmc   +2 more sources

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions. We combined molecular genetic analyses, quantitative mass spectrometry of laser micro‐dissected polyglucosan bodies, immunohistochemistry and western blot, and show that the absence of glycogenin‐1 (GYG1), a protein important for glycogen ...
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Daniel J. Costello, Niamh Bermingham, Anders Oldfors   +4 more
wiley   +2 more sources

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

Genes and Diseases
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   +2 more sources

A case of adult polyglucosan body disease. [PDF]

Yonsei Med J, 2007
Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and cognitive ...
Lee SY, Park JH, Kim SH, Kim TS, Kim WJ, Choi YC.   +5 more
europepmc   +2 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.
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   +2 more sources

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. [PDF]

Ann Neurol, 2012
Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy.
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.   +23 more
europepmc   +2 more sources

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. [PDF]

Biochem J, 2017
Glycogen storage disorders (GSDs) are caused by excessive accumulation of glycogen. Some GSDs [adult polyglucosan (PG) body disease (APBD), and Tarui and Lafora diseases] are caused by intracellular accumulation of insoluble inclusions, called PG bodies (
Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O.   +9 more
europepmc   +2 more sources