Ask about this productRelated genes to: MFSD8 antibody
- Gene:
- MFSD8 NIH gene
- Name:
- major facilitator superfamily domain containing 8
- Previous symbol:
- CLN7
- Synonyms:
- MGC33302
- Chromosome:
- 4q28.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-02-19
- Date modifiied:
- 2019-04-23
Related products to: MFSD8 antibody
Related articles to: MFSD8 antibody
- Entomopathogenic nematodes (EPNs) are valued for sustainable pest control, yet their efficacy hinges on matching foraging behavior to host ecology. The nematode , long regarded as an ambusher, paradoxically infects the cryptic red palm weevil (), which resides deep in plant tissue. Here, we show that this contradiction stems from a context-dependent modulation of foraging-related behaviors, triggered by butylated hydroxytoluene (BHT)-a host-derived volatile emitted by larvae. BHT functions as a potent behaviorally active volatile, increasing locomotion, jumping, host attraction, and infection success in . Mechanistically, BHT engages a lysosome-associated signaling pathway involving , , and . Knockdown of these genes disrupted BHT-induced behavioral changes, supporting their functional involvement. Our findings extend existing context-dependent models of nematode foraging by providing mechanistic insight into chemically induced behavioral modulation. This work opens possibilities for improving EPN biocontrol efficacy via ecological or molecular priming. - Source: PubMed
Publication date: 2026/02/18
Wu Sheng-YenZhao YanYang YuntaoTang FanxiLi YixuanXu JinjuDeng HonghongHou Youming - Autosomal recessive ataxia is characterized primarily by gait and balance problems. Peripheral neuropathy, which affects peripheral nervous system is manifested as sensory loss, pain, numbness and/or burning sensation accompanied by distal muscle atrophy which can cause limb deformities. We recruited seven consanguineous families having symptoms of peripheral neuropathy or ataxia for the identification of possible genetic defects underlying their disease conditions. Exome sequencing was completed for multiple participants of each family and data were filtered to retain rare deleterious variants. We identified disease-causing variants for five out of seven families. Different variants of GDAP1 were delineated in members of two families; while those of AFG3L2, MFSD8 and SETX affected members in one family each. Interestingly, one patient was homozygous for both a GDAP1 and a pathogenic MMACHC variant. Genetic heterogeneity was observed in one family since a homozygous frameshift variant of ALS2 was found in a patient while it was absent in his two affected first cousins. No genetic cause was identified for these two patients and those in another family. Hence, exome sequencing pinpointed molecular causes of recessively inherited ataxia or peripheral neuropathy in five participating families. This research has broadened the clinical spectrum of some of these genetic disorders. - Source: PubMed
Publication date: 2026/01/28
Aslam FaizaWajid MuhammadButt Amina IftikharWohler ElizabethSeo Go HunJi WeizhenLakhani Saquib ASobreira NaraNaz Sadaf - Loss-of-function mutations in Progranulin ( ) cause neuronal ceroid lipofuscinosis (NCL) and hereditary frontotemporal dementia, presumably through lysosomal dysfunction. Lysosomes are key metabolic organelles whose functions vary widely depending on their cell type of origin. These functional variations are driven by the lysosomal proteome, yet whether progranulin deficiency alters the lysosomal composition of the mammalian brain in a cell type-specific manner has not been tested. To answer this unknown, we used cell type-specific LysoIP to perform tandem-mass-tag mass-spectrometry and detected distinct aberrant proteomic signatures in progranulin-deficient astrocytes, neurons, and microglia, indicating cell type-specific dysregulation of key lysosomal proteins with crucial functions in sphingolipid metabolism and lysosome organization. These proteins markedly differed from progranulin-deficient RNAseq data sets, suggesting progranulin regulates lysosomal composition through post-translational mechanisms including the sorting of nascent proteins to the lysosome. Validation experiments confirmed that Mfsd8 and Ppt1, proteins whose mutations on their own cause NCL, were essentially absent from progranulin-deficient neuronal and microglial lysosomes, respectively. Our findings demonstrate the protein composition of lysosomes are uniquely sensitive to progranulin deficiency in a cell type-specific manner and that progranulin may function as an essential hub for endolysosomal homeostasis. - Source: PubMed
Publication date: 2026/03/10
Werthmann Gordon CHerz Joachim - Neuronal Ceroid Lipofuscinoses type 7 (CLN7) is a paediatric lysosomal storage disease caused by mutations of the MFSD8 gene. Affected children have normal early development, but then suffer from progressive cognitive, motor, verbal, and visual decline. Ataxia and myoclonic epilepsy are predominant features of the condition, and there are no effective therapies. Death usually occurs by approximately age 11 years. While adeno-associated virus serotype 9 (AAV9) based gene therapy holds promise for treating monogenetic neurologic disorders, the impact of this intervention is limited by the maximum safe tolerable dose and the host immune response to the capsid and gene product. This study sought to confirm the safety of high dose intrathecal AAV-based gene therapy under a comprehensive immunosuppression regimen. - Source: PubMed
Publication date: 2025/11/27
Greenberg Benjamin MMinassian BergeMessahel SouadEdgar Veronica BordesLowden AndreaDahshi HamzaNettesheim Emily RNguyen Hoang HHughes SamuelMuthukumar Alagar RSrinivasan KalayarasanIannaccone SusanVaradarajan GanapathyGray Steven JKayani Saima N - Adult-onset recessive cerebellar ataxias comprise a heterogeneous group of disorders. - Source: PubMed
Publication date: 2025/10/04
Sharma PoojaAgarwal AyushDe TiyashaHandique JupitaKashyap KritiGarg DivyaniGarg AjayReza ShahrumiSonakar Akhilesh KumarSrivastava Achal KFaruq Mohammed