Table 2 |.

Summary of selected cell-type-specific or organ-specific diseases resulting from mutations in nucleoporins or NPC-associated proteins

Disease	Mutated protein	Cell type	Phenotype	Refs
Allgrove (AAA) syndrome	Aladin	CNS motor neurons; multiple peripheral cell types	Motor neuron disease, achalasia, adrenal deficiency, alacrima	177–180
Human lethal congenital contracture syndrome 1	GLE1	CNS motor neurons	Infantile motor neuron disease, weakness, death	18
Lethal arthrogryposis with anterior horn cell disease
Striatal nigral degeneration	NUP62	Striatal neurons	Huntington-like disease	17
Fetal akinesia	NUP88	Muscle	Muscle atrophy	181
Steroid-resistant nephrotic syndrome	NUP93, NUP205, XPO5, NUP107	Kidney	Renal pathology, diffuse mesangial sclerosis, loss of renal function	182
Intellectual disability and general developmental delay	NUP107	CNS and kidney	Simplified cortical gyri, undeveloped frontal lobes, glomerulosclerosis	183
Atrial fibrillation	NUP155	Heart	Childhood death	184
Acute febrile encephalopathy	NUP214	Purkinje cells, cortex	Febrile-induced ataxia, progressive cortical neurodegeneration	19,20
Encephalitis and autoimmune myositis	NUP358	CNS and PNS	Encephalopathy, myopathy often after viral infection	185
Limb-girdle muscular dystrophy 1F	TNPO3	Muscle	Selective muscle weakness	186
Intellectual disability	TPR	Unknown	White matter changes with delayed myelination, gliosis, cerebellar atrophy, microcephaly, ataxia	187

GLE1, mRNA export factor GLE1; TNPO3, transportin 3; TPR, translocated promoter region nuclear basket protein; XPO5, exportin 5.