The lysosome-associated membrane protein (LAMP-1) is elevated in the cells and plasma from lysosomal storage disorder-affected individuals; however, the mechanism of this elevation is not well defined. In this study we have investigated the synthesis, glycoprocessing, trafficking, and turnover of LAMP-1 in human skin fibroblasts from Pompe disease patients and control individuals. There were similar levels of LAMP-1 synthesis in both cell types, but glycoprocessing was retarded in Pompe (T1/2 = 25 min) compared to control (T1/2 = 17 min) fibroblasts. There was also a marked delay in trafficking of LAMP-1 to lysosomes of Pompe (T1/2 = 200 min) compared to control (T1/2 = 100 min) cells. A proportion of newly synthesized LAMP-1 (5.4% in Pompe...
The molecular basis of clinical diversity in glycogenosis type II (Pompe's disease) was investi...
A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of Purkinje neurons...
<div><p>Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in a...
Danon disease, a condition characterized by cardiomyopathy, myopathy, and intellectual disability, i...
Pompe disease is a progressive form of muscular dystrophy caused by a deficiency in the lysosomal en...
More than sixty different proteins are inserted into the membrane of the lysosome, participating in ...
Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome t...
For many lysosomal storage disorders, presymptomatic detection, before the onset of irreversible pat...
BACKGROUND: Pompe disease (PD) is a metabolic myopathy caused by alpha-glucosidase (GAA) deficiency ...
The lysosomal membrane-associated glycoproteins LAMP-1 and LAMP-2 are the major constituents of lyso...
It is hard to find an area of biology in which autophagy is not involved. In fact, the topic extends...
Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA...
The two structurally related, major lysosomal membrane proteins LAMP-1 and LAMP-2 were for a long ti...
AbstractCultured human skin fibroblasts from control persons and from patients with the generalized ...
Lysosomal biogenesis is a complex process requiring the coordinated expression and colocalization of...
The molecular basis of clinical diversity in glycogenosis type II (Pompe's disease) was investi...
A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of Purkinje neurons...
<div><p>Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in a...
Danon disease, a condition characterized by cardiomyopathy, myopathy, and intellectual disability, i...
Pompe disease is a progressive form of muscular dystrophy caused by a deficiency in the lysosomal en...
More than sixty different proteins are inserted into the membrane of the lysosome, participating in ...
Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome t...
For many lysosomal storage disorders, presymptomatic detection, before the onset of irreversible pat...
BACKGROUND: Pompe disease (PD) is a metabolic myopathy caused by alpha-glucosidase (GAA) deficiency ...
The lysosomal membrane-associated glycoproteins LAMP-1 and LAMP-2 are the major constituents of lyso...
It is hard to find an area of biology in which autophagy is not involved. In fact, the topic extends...
Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA...
The two structurally related, major lysosomal membrane proteins LAMP-1 and LAMP-2 were for a long ti...
AbstractCultured human skin fibroblasts from control persons and from patients with the generalized ...
Lysosomal biogenesis is a complex process requiring the coordinated expression and colocalization of...
The molecular basis of clinical diversity in glycogenosis type II (Pompe's disease) was investi...
A hallmark of Niemann-Pick disease, type C (NPC) is the progressive degeneration of Purkinje neurons...
<div><p>Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in a...