Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SMPD4 -mediated sphingolipid metabolism regulates brain and primary cilia development

29 Oct 2024

Abstract excerpt

Genetic variants in multiple sphingolipid biosynthesis genes cause human brain disorders. A recent study looked at people from 12 unrelated families with variants in the gene SMPD4, a neutral sphingomyelinase that metabolizes sphingomyelin into ceramide at an early stage of the biosynthesis pathway. These individuals have severe developmental brain malformations, including microcephaly and cerebellar hypoplasia....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomedical Research and Pathophysiology
Share to Genetic and Kidney Cyst Diseases
Share to Sphingolipid Metabolism and Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39470011
DOI: 10.1242/dev.202645

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMPD4 -mediated sphingolipid metabolism regulates brain and primary cilia developmentPMID 39470011Read ↗

<i>SMPD4</i> mediated sphingolipid metabolism regulates brain and primary cilia developmentSemantic proximity Read ↗

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.Semantic proximity Read ↗

Human genetic disorders of sphingolipid biosynthesis.Semantic proximity Read ↗

Ceramide signalling in inherited and multifactorial brain metabolic diseasesSemantic proximity Read ↗

A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation.Semantic proximity Read ↗

Monogenic neurological disorders of sphingolipid metabolism.Semantic proximity Read ↗

Neutral sphingomyelinase 2 (smpd3) in the control of postnatal growth and development.Semantic proximity Read ↗

Acid Sphingomyelinase Deficiency Normalizes Neuronal Function in GCase Deficiency - Unexpected Biological Rescue Effect of Combined Genetic Risk Factors for Parkinson’s DiseaseSemantic proximity Read ↗

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Acid Sphingomyelinase DeficiencySemantic proximity Read ↗

Loss of SPNS1, a lysosomal transporter, in the nervous system causes dysmyelination and white matter dysplasiaSemantic proximity Read ↗

Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiologySemantic proximity Read ↗

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.