GEO DataSets

(Submitter supplied) Macrophage inflammatory protein 1alpha/CCL3 protein is a known pro-inflammatory cytokine that can mediate chemotaxis of monocytes and promote cell degranulation. Ccl3 gene expression is elevated in the CNS and visceral tissue of many lysosomal storage disorders. The deletion of Ccl3 in a mouse model of Sandhoff disease was reported to result in reduced monocyte-associated pathology in the brain, delayed neurodegeneration, and prolonged health. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6246

16 Samples

Download data: CEL

(Submitter supplied) Niemann-Pick Type C (NPC) disease is a rare, genetic, lysosomal disorder with progressive neurodegeneration. Poor understanding of the pathophysiology and lack of blood-based diagnostic markers are major hurdles in the treatment and management of NPC and several additional neurological, lysosomal disorders. To identify disease severity correlates, we undertook whole genome expression profiling of sentinel organs, brain, liver, and spleen of Balb/c Npc1-/- mice (Npc1nih)relative to Npc1+/- at an asymptomatic stage, as well as early- and late-symptomatic stages. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Datasets:

GDS4394 GDS4427 GDS4428

Platform:

GPL1261

51 Samples

Download data: CEL, TXT

Analysis of spleen across 3 age groups of Npc1−/− Balb/c females with Niemann-Pick Type C (NPC) disease. NPC is a neurodegenerative, lysosomal disorder caused by Npc1 or Npc2 gene dysfunction. Results provide insight into the molecular mechanisms underlying NPC progression.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 6 age, 2 genotype/variation sets

Platform:

GPL1261

Series:

GSE39621

12 Samples

Download data: CEL

Analysis of liver across 3 age groups of Npc1−/− Balb/c females with Niemann-Pick Type C (NPC) disease. NPC is a neurodegenerative, lysosomal disorder caused by Npc1 or Npc2 gene dysfunction. Results provide insight into the molecular mechanisms underlying NPC progression.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 6 age, 2 genotype/variation sets

Platform:

GPL1261

Series:

GSE39621

12 Samples

Download data: CEL

Analysis of brain across 6 age groups of Npc1−/− Balb/c females with Niemann-Pick Type C (NPC) disease. NPC is a neurodegenerative, lysosomal disorder caused by Npc1 or Npc2 gene dysfunction. Results provide insight into the molecular mechanisms underlying NPC progression.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 13 age, 3 genotype/variation sets

Platform:

GPL1261

Series:

GSE39621

27 Samples

Download data: CEL

(Submitter supplied) We used microarrays to detail the global programme of gene expression underlying the disease progression in the mutant mice compared to their control littermates.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6246

78 Samples

Download data: CEL

(Submitter supplied) Niemann-Pick Type C disease is an autosomal recessive neurodegenerative disorder with abnormal lipid storage as the major cellular pathologic hallmark. Genetic analyses have identified mutations in NPC1 gene in the great majority of cases, while mutations in NPC2 account for the remainders. Yet, little is known regarding the cellular mechanisms responsible for NPC pathogenesis, especially for neurodegeneration, which is the usual cause of death. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platforms:

GPL4134 GPL6481

16 Samples

Download data: TXT

(Submitter supplied) Inherited metabolic diseases belong to the group of rare diseases (so called ‘orphan diseases’) whose incidence is less than 1: 5 000 live births. Among these diseases the lysosomal storage diseases (LSD) are also distinguished, which are caused by disorders in the lysosomal system resulting from the mutations in the genes coding for lysosomal hydrolases, cofactors, enzymes involved in the posttranslational processing, and proteins present in the lysosomal membrane. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL10904

144 Samples

Download data: IDAT