Glycogen storage disease

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Transcriptomics (7531)
Genomics (1053)
Unknown (543)
Proteomics (52)
Metabolomics (15)
Clinical (2)
Models (1)
Genomic (1)
Methylation profiling (1)
Other (1)

Organisms

Homo sapiens (5187)
Mus musculus (2448)
Drosophila melanogaster (199)
Rattus norvegicus (133)
Gallus gallus (46)
Danio rerio (39)
Saccharomyces cerevisiae (35)
Sus scrofa (34)
Canis lupus familiaris (33)
Arabidopsis thaliana (28)
Bos taurus (26)
Caenorhabditis elegans (24)
Macaca mulatta (12)
Candida albicans (9)
Chlorocebus aethiops (7)
Pan troglodytes (7)
synthetic construct (7)
Leishmania donovani (5)
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mixed sample (5)
Cricetulus griseus (5)
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Zea mays (4)
Schizosaccharomyces pombe (4)
Campylobacter jejuni (4)
Aedes aegypti (4)
Oncorhynchus mykiss (4)
Solanum lycopersicum (4)
Campylobacter jejuni subsp. jejuni NCTC 11168 = ATCC 700819 (3)

Organisms

Mus musculus (13)
Homo sapiens (10)
Papio hamadryas (2)
Drosophila melanogaster (1)
human oral metagenome (1)
Caenorhabditis elegans (1)

Repository

biostudies-arrayexpress (8542)
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geo (24)
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pride (12)
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Tissue

Blood plasma (4)
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Disease

Normal (25)
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Human osteosarcoma cell line (1)

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Mass Spectrometry (12)
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Gel-based experiment (1)

Instrument Platform

Illumina NovaSeq 6000 (301)
NextSeq 500 (218)
Illumina HiSeq 4000 (132)
Illumina HiSeq 2500 (129)
Illumina HiSeq 2000 (104)
NextSeq 550 (51)
Illumina NovaSeq X (37)
NextSeq 2000 (33)
Illumina MiSeq (22)
Illumina HiSeq 1500 (21)
Illumina Genome Analyzer IIx (14)
DNBSEQ-G400 (14)
Illumina Genome Analyzer II (11)
NA (11)
Illumina HiSeq 3000 (9)
Element AVITI (8)
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Ion Torrent Proton (7)
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PC (3)
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418 [Affymetrix] (3)

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2013 (1140)
2015 (1120)
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2016 (766)
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2010 (705)
2008 (283)
2009 (265)
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2022 (162)
2026 (145)
2023 (142)
2020 (134)
2021 (131)
2024 (129)
2018 (110)
2019 (106)
2007 (98)
2017 (94)
2006 (34)
2005 (33)
2004 (21)
2003 (4)
2002 (1)

CHEBI ID

CHEBI:60645 (3)
CHEBI:18211 (3)
CHEBI:17385 (3)
CHEBI:16704 (3)
CHEBI:18257 (3)
CHEBI:17821 (3)
CHEBI:17568 (3)
CHEBI:30769 (3)
CHEBI:88441 (2)
CHEBI:66071 (2)
CHEBI:176456 (2)
CHEBI:76341 (2)
CHEBI:27410 (2)
CHEBI:16974 (2)
CHEBI:71464 (2)
CHEBI:86542 (2)
CHEBI:64564 (2)
CHEBI:85299 (2)
CHEBI:40410 (2)
CHEBI:91315 (2)
CHEBI:64032 (2)
CHEBI:24462 (2)
CHEBI:82968 (2)
CHEBI:17033 (2)
CHEBI:59783 (2)
CHEBI:82956 (2)
CHEBI:28733 (2)
CHEBI:48430 (2)
CHEBI:111517 (2)
CHEBI:17822 (2)

Metabolite Name

L-Cystathionine (2)
3-amino-2-piperidone (2)
Erythritol (2)
UDP-galactose (2)
Maltose (2)
N1-Methyl-2-pyridone-5-carboxamide (2)
Uridine (2)
Tryptophan (2)
Thymine (2)
Serine (2)
Proline (2)
Lysine (2)
Homocysteine (2)
Cysteine (2)
Citrulline (2)
Aspartate (2)
Asparagine (2)
Phenylalanine (2)
Tyrosine (2)
Urea (2)
Fructose (2)
Threonine (2)
Methionine (2)
Glutamine (2)
Citrate (2)
Ornithine (2)
Alanine (2)
Lactate (2)
Valine (2)
Isoleucine (2)

First Public Date

2025 (8)
2026 (6)
2024 (5)
2020 (4)
2019 (4)
2023 (3)
2022 (3)
2021 (2)
2018 (2)
2015 (1)

Study status

Recruiting (2)

Study type

Transcription profiling by array (4754)
RNA-seq of coding RNA (1263)
ChIP-seq (868)
RNA-seq of coding RNA from single cells (210)
Other (199)
ChIP-chip by tiling array (149)
RNA-seq of non coding RNA (145)
Comparative genomic hybridization by array (102)
Methylation profiling by high throughput sequencing (100)
Methylation profiling by array (94)
RNA-seq of total RNA (77)
Unknown experiment type (73)
Cell line - High-throughput sequencing (43)
MicroRNA profiling by array (41)
ChIP-chip by array (40)
DNA-seq (38)
Transcription profiling by RT-PCR (31)
ATAC-seq (30)
Genotyping by array (27)
Transcription profiling by tiling array (26)
RNAi profiling by array (18)
Animal - High-throughput sequencing (17)
Human - High-throughput sequencing (14)
Cell line - One-color microarray (14)
Transcription profiling by SAGE (13)
Proteomic profiling by array (13)
RIP-seq (11)
CUT&RUN (10)
Hi-C (8)
ScATAC-seq (8)

Release Date

2014 (1231)
2013 (1152)
2015 (1137)
2012 (877)
2016 (789)
2011 (741)
2010 (715)
2008 (288)
2009 (272)
2022 (222)
2025 (217)
2023 (191)
2021 (186)
2020 (185)
2024 (161)
2018 (136)
2026 (135)
2019 (130)
2017 (116)
2007 (105)
2006 (35)
2005 (34)
2004 (22)
2003 (4)
2002 (3)
1998 (1)

Lab affiliation

Laboratory of Pediatrics, UMCG, The Netherlands (2)
Amicus Therapeutics (1)
Assistant Professor Department of Food Science & Technology Food Allergy Research & Resource Program University of Nebraska-Lincoln (1)
Charles Perkins Centre, School of Medical Sciences, University of Sydney, Sydney, Australia. (1)
Department of Pediatrics, University of Groningen, University Medical Center Groningen; Groningen, The Netherlands (1)
Dept. of Neurology Hadassah-Hebrew University Medical Center Ein Kerem Jerusalem 91120 Israel (1)
Geriatrics and Gerontology, Department of Medicine, University of Wisconsin - Madison (1)
Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12) (1)
Ist G. Gaslini (1)
Lady Davis Institute for Mediacl Research (1)
University of Alberta (1)

Location

Australia (1)
Belgium (1)
United States (1)

Keyword

Neglected Diseases (1)
Orphan Diseases (1)
Rare Disease Research (1)
Registries (1)
Batten Disease (1)
Mucolipidosis IV (1)
Undiagnosed (1)
Uncommon Disease (1)
Hypersomnia (1)
Marinesco-Sjogren Syndrome (1)
4p-/Wolf-Hirschhorn Syndrome (1)
Wiedermann-Steiner Syndrome (1)
Hemophagocytic Lymphohistiocytosis (HLH) (1)
Behcet’s Disease (1)
Jansen metaphyseal chondrodysplasia (1)
Chronic recurrent multifocal osteomyelitis (CRMO) (1)
Hereditary Sensory and Autonomic Neuropathy (1)
Nephropathic infantile cystinosis (1)
Ocular cystinosis (1)
Spinal Bulbar Muscular Atrophy (SBMA) (1)
Mucolipidosis (1)
Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders) (1)
Shine Syndrome (1)
Intestinal Bromhidrosis Syndrome (1)
Autosomal recessive extra oral halitosis (1)
CACNA1H mutation (1)
Dimethylglycine dehydrogenase deficiency (1)

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The glycogen scaffolding protein PTG coordinately regulates glycogen and lipid storage

Glycogen and lipid are major storage forms of energy that are tightly regulated by hormones and metabolic signals. Here, we evaluate the role of the glycogenic scaffolding protein PTG/R5 in energy homeostasis. We demonstrate that feeding mice a high-fat diet (HFD) increases hepatic glycogen, corresp...

ORGANISM(S): Mus musculus

2014-06-13 | E-GEOD-45319 | biostudies-arrayexpress

Glucagon-induced PGC-1aplha4/PPARgamma promotes hepatic lipid storage and macrosteatosis in fasting and MASLD

Please update the study abstract/descriptionThe liver plays a central role in regulating the transition between fasting and feeding states, coordinating glycogen breakdown, gluconeogenesis, fatty acid catabolism, and lipid storage. Disruptions in this balance contribute to metabolic disorders, in...

2026-06-16 | MTBLS13087 | MetaboLights

Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in Pompe disease

Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of ?-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. ...

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

2021-11-07 | MSV000088329 | MassIVE

Proteomic study in Pompe disease

The raw data of SWATH proteomic analysis of plasma in Pompe disease patients and controls

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

MSV000086114 | MassIVE

Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia.

Not available

S-EPMC6954303 | biostudies-literature

Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control.

Not available

S-EPMC3832627 | biostudies-literature