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ProteomicsProximity ligation mapping of microcephaly associated SMPD4 shows association with components of the nuclear pore mem-brane
SMPD4 is a neutral sphingomylinase implicated in a specific type of congenital microcephaly. Although not intensively studied, SMPD4 deficiency has also been found to cause cell division defects. This suggests a role for SMPD4 in cell cycle and differentiation. In order to explore this role we used ...
ORGANISM(S): Homo sapiens (Human) 
2022-10-25 | PXD037694 | Pride
Nuclear pore membrane  sphingomyelinase  nup35  smpd4  n-smnase-3 
GenomicsSMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development
SMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development
PRJNA1054125 | ENA
TranscriptomicsSMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development
SMPD4 (neutral sphingomyelinase-3/nSMase3) has recently been shown to be a new cause of microcephaly in a cohort of twenty-three pediatric patients. The function of nSMases in brain development and how SMPD4 variants cause human microcephaly and cerebellar hypoplasia was previously unknown.We develo...
ORGANISM(S): Homo sapiens 
2023-12-24 | GSE250472 | GEO
UnknownSMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.
Not available
S-EPMC11586524 | biostudies-literature
UnknownHigh expression of SMPD4 promotes liver cancer and is associated with poor prognosis.
Not available
S-EPMC11987469 | biostudies-literature
UnknownSMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Not available
S-EPMC10393401 | biostudies-literature
TranscriptomicsLoss of ER and nuclear envelope-associated neutral sphingomyelinase SMPD4 causes a severe neurodevelopmental disorder with microcephaly and congenital arthrogryposis
Several neurodevelopmental processes including neuronal survival, migration and differentiation are controlled by sphingolipid metabolism. Sphingomyelin is an abundant component of cell membranes. Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in intracellular signaling...
ORGANISM(S): Homo sapiens 
2019-12-31 | GSE133264 | GEO
GenomicsLoss of ER and nuclear envelope-associated neutral sphingomyelinase SMPD4 causes a severe neurodevelopmental disorder with microcephaly and congenital arthrogryposis
Loss of ER and nuclear envelope-associated neutral sphingomyelinase SMPD4 causes a severe neurodevelopmental disorder with microcephaly and congenital arthrogryposis
PRJNA550547 | ENA
UnknownProximity Ligation Mapping of Microcephaly Associated SMPD4 Shows Association with Components of the Nuclear Pore Membrane.
Not available
S-EPMC8870324 | biostudies-literature
UnknownLoss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Not available
S-EPMC6817560 | biostudies-literature
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