TFG, trafficking from ER to golgi regulator, 10342

N. diseases: 104; N. variants: 6
Disease: Motor neuron atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.020 Biomarker disease BEFREE Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. 28196470 2017
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.020 Biomarker disease BEFREE These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. 22883144 2012