NCALD, neurocalcin delta, 83988

N. diseases: 18; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.050 Biomarker disease BEFREE NCALD reduction is proven to be a protective modifier of SMA across species, including worm, zebrafish, and mice. 31230718 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.050 Biomarker disease BEFREE Taken together, our study identifies a novel link between NCALD and adult neurogenesis in the hippocampus, possibly <i>via</i> a MAP3K10-JNK pathway and emphasizes the safety of using NCALD reduction as a therapeutic option for SMA. 30853885 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.050 AlteredExpression disease BEFREE Both PLS3 overexpression and NCALD downregulation protect against SMA by restoring impaired endocytosis; however, the exact mechanism of this protection is largely unknown. 29961886 2018
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.050 Biomarker disease BEFREE Expert commentary: The identification of genetic modifiers such as PLS3 and NCALD in humans or of SMA modulators such as Elavl4 (HuD), Copa, Uba1, Mapk10 (Jnk3), Nrxn2 and Tmem41b (Stasimon) in various SMA animal models improved our knowledge of impaired cellular pathways in SMA. 28635376 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
0.050 Biomarker disease BEFREE Importantly, NCALD knockdown effectively ameliorates SMA-associated pathological defects across species, including worm, zebrafish, and mouse. 28132687 2017