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The protein encoded by ATL1 is a GTPase and a Golgi body transmembrane protein. Additionally we are shipping ATL1 Antibodies (61) and many more products for this protein.
Showing 7 out of 7 products:
This study suggests that atlastin may regulate BMP receptor (show BMPR1A Proteins) trafficking. and genetic or pharmacological inhibition of BMP signaling was sufficient to rescue the loss of mobility and spinal motor axon defects of atl1 morphants.
The results suggest that tethering and lipid mixing are catalyzed concurrently by atlastin GTPase (show RACGAP1 Proteins) hydrolysis but that the energy requirement for lipid mixing exceeds that for tethering, and the full energy released through crossover formation is necessary for fusion.
that Atlastin 1 mutations may cause autosomal recessively inherited paraplegia with an underlying loss-of-function mechanism. Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene.
This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia.
We identified two novel mutations and two previously reported mutations in SPAST (show SPAST Proteins) and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission
Novel splicing pathogenic variants were identified in ATL1 genes of Korean patients with hereditary spastic paraplegia.
a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for hereditary spastic paraplegia causation.
These results suggest that the three ATLs have different capacities to mediate endoplasmic reticulum fusion, with ATL1 being the strongest and ATL3 (show ATL3 Proteins) being the weakest.
purified and reconstituted human ATL1 exhibited no in vitro fusion activity. When the cytosolic segment of human ATL1 was connected to the transmembrane (TM) region and C-terminal tail (CT) of Drosophila ATL
Data showed 3 micro-mutations and 2 exon deletions in SPAST (show SPAST Proteins) gene and 2 micro-mutations in ATL1 gene in this cohort of Chinese patients with spastic paraplegia.
Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of Hereditary spastic paraplegias, whereas heterozygous carriers are asymptomatic.
Endoplasmic reticulum morphology is markedly disrupted in ATL1, ATL2 (show ATL2 Proteins), and ATL3 (show ATL3 Proteins) knockout cells.
VCP (valosin-containing protein (show vcp Proteins)), together with its cofactor P47 (show MFGE8 Proteins) and the endoplasmic reticulum (ER) morphology regulator ATL1 (Atlastin-1), regulates tubular ER formation
This publication discusses functional and mutational aspects of atlastin GTPase 1 in humans.
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene.
atlastin GTPase 1
, spastic paraplegia 3A (autosomal dominant)
, GTP-binding protein 3
, brain-specific GTP-binding protein
, guanine nucleotide-binding protein 3
, guanylate-binding protein 3
, spastic paraplegia 3 protein A
, spastic paraplegia 3A homolog