oral melanotic macule causes Mystery behind labial and macules: Clinical, dermoscopic and pathological aspects of Laugier-Hunziker syndrome Differential Diagnosis of Pigmented Lesions
Description
Macule, Oral Melanotic

However, when mutant FUS, TDP-43, and ATXN2 aggregate within stress granules, they form insoluble aggregates, impacting appropriate transcription [12, 219]

OCTN2 plays a crucial role in carnitine homeostasis

Neuron 68 , 11731186 (2010)
OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2
