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ProteomicsTECPR2 knock-in mice proteomics
Mutation in the gene encoding Tectonic -propeller repeat-containing repeat protein 2 (TECPR2) leads to hereditary sensory and autonomic neuropathy type 9 (HSAN9) which is a fatal complex neurodevelopmental and neurodegenerative disorder involving the sensory and peripheral nervous system. TECPR2 is ...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2025-11-10 | PXD059099 | Pride
Bicap Endoip Hsan9 Microglia Tecpr2 
ProteomicsTECPR2 HSAN9 Mutation CSF analysis Mouse
Analysis of proteome changes in CSF in mice expressing a disease-mimicking TECPR2 variant
ORGANISM(S): Mus musculus (Mouse) 
2025-10-23 | PXD059057 | Pride
Tecpr2 Csf Hsan9 Mouse 
ProteomicsTrafficking and interactions upon loss of TECPR2
Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare neurological disease caused by mutations in the gene encoding for Tectonin β-propeller repeat containing protein 2 (TECPR2) which possibly result in loss of the protein. Beside its potential role in autophagy, TECPR2 may serve as positi...
ORGANISM(S): Homo sapiens (Human) 
2023-01-09 | PXD031874 | Pride
Tecpr2 Copii Apex2 Proximity biotinylation Lysoip Eres Rush specs Suspecs Hsan9 Spg49 
TranscriptomicsNeuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia
Mutations in the gene encoding Tectonic b-propeller repeat-containing repeat protein 2 (TECPR2) cause hereditary sensory and autonomic neuropathy subtype 9 (HSAN9) which is a fatal neurodevelopmental and neurodegenerative disorder involving the sensory and peripheral nervous system. TECPR2 is ubiqui...
ORGANISM(S): Mus musculus 
2025-09-16 | GSE284475 | GEO
UnknownNeuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.
Not available
S-EPMC12578842 | biostudies-literature
UnknownSpatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2.
Not available
S-EPMC9935918 | biostudies-literature
ProteomicsTECPR2 HSAN9 Mutation Medulla analysis Mouse
Analysis of proteome changes in medulla in mice expressing a disease-mimicking TECPR2 variant
ORGANISM(S): Mus musculus (Mouse) 
2025-10-23 | PXD065944 | Pride
Proteomics medulla tecpr2 
UnknownBlended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Not available
S-EPMC11822794 | biostudies-literature
GenomicsNeuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia
Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia
PRJNA1199363 | ENA
UnknownDeveloping antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.
Not available
S-EPMC9287140 | biostudies-literature
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