Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus.
He is known for research involving regeneration of peripheral nerves, kinetic behavior of the Golgi apparatus during mitosis, and studies of pellagra.
The protein normally resides in a cell structure called the Golgi apparatus, which modifies and transports newly produced enzymes and other proteins.
This causes abnormal nucleotide-sugar transport into the Golgi apparatus, leading to malformations of the vertebral column.
GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins.
O-linked glycosylation occurs at a later stage during protein processing, probably in the Golgi apparatus.
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Both of these fucosyltransferases have been localized to the endoplasmic reticulum, which is unusual for glycosyltransferases, most of which function in the Golgi apparatus.
These melanin macroglobules are probably formed due to failure of melanosomes to separate from the ER-golgi system with the accumulation of enzymes and other secretory proteins leading to an increase organelle size.
Capsulan is thought to be synthesised in the Golgi and then secreted through the decapore (a specialised circle of 10 pores through the cell wall).
The encoded protein, which is normally found in the Golgi but which can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CDw75, and CD76.
Secreted proteins and extracellular parts of membrane proteins that pass through the Golgi apparatus may be sulfated.
Golgi apparatus | Fire apparatus | Camillo Golgi | Ramsey Car Transfer Apparatus | fire apparatus | Corteno Golgi | Self-contained breathing apparatus | Seagrave Fire Apparatus | Quint (fire apparatus) | Golgi's method | Golgi alpha-mannosidase II | Eyespot apparatus | Artist's representation of distillation apparatus for aqua vitae, from ''Liber de arte Distillandi'', by Hieronymus Brunschwig |