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Table 3 KEGG 2019 and Reactome 2016 resulting pathways that were common between the three tissues

From: Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia


iPSC-derived neurons and FCLs and LCLs

iPSC-derived neurons and FCLs

iPSC-derived neurons and LCLs

FCLs and LCLs

KEGG 2019

Proteoglycans in cancer



Salmonella infection




C-type lectin receptor signaling pathway


Chagas disease (American trypanosomiasis)






Hematopoietic cell lineage


Cytokine-cytokine receptor interaction


Axon guidance

Reactome 2016

Cytokine signaling in immune system

Defective CHST6 causes MCDC1

Interferon alpha/beta signaling

Termination of translesion DNA synthesis

Defective ST3GAL3 causes MCT12 and EIEE15

DNA Damage Bypass

Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

Gap-filling DNA repair synthesis and ligation in GG-NER

Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

Growth hormone receptor signaling

Non-integrin membrane-ECM interactions

Nicotinate metabolism

Keratan sulfate degradation

Signaling by Interleukins

Extracellular matrix organization

Recognition of DNA damage by PCNA-containing replication complex

Diseases associated with glycosaminoglycan metabolism

Immune system

Rho GTPase cycle

HS-GAG biosynthesis


Glycosaminoglycan metabolism

Senescence-Associated Secretory Phenotype (SASP)

Heparan sulfate/heparin (HS-GAG) metabolism


ECM proteoglycans

Axon guidance

Cell surface interactions at the vascular wall