Results 61 to 70 of about 2,677 (178)
Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]
, 2005 Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie +7 more
core +1 more source
Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]
, 2018 Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier +3 more
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Annals of the New York Academy of Sciences, Volume 1556, Issue 1, February 2026.ABSTRACT Diagnosing systemic juvenile idiopathic arthritis (sJIA) poses significant challenges. Accumulating evidence has indicated that tRNA‐derived fragments (tRFs) play integral roles in the pathogenesis of numerous diseases. Plasma samples were collected from individuals diagnosed with sJIA and healthy controls (HCs) from two medical centers and ...
Jiqian Huang +6 more
wiley +1 more source
Cerebral creatine deficiency syndromes: 13 years experience in Portugal [PDF]
, 2017 Os síndromes da deficiência em creatina cerebral são um grupo de erros inatos do metabolismo da creatina que incluem as deficiências de síntese da creatina: arginina:glicina amidinotransferase (AGAT) e S-adenosil- L-metionina:guanidinoacetato ...
Lopes, Altina +2 more
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Clinica Chimica Acta, 2022 Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures. SLC6A8, GAMT, and GATM are known genes responsible for CCDS. In this study, seven pediatric patients with developmental delay were recruited and submitted to a series ...
Ming, Shen +10 more
openaire +2 more sources
Mapping protein–protein interactions by mass spectrometry
Mass Spectrometry Reviews, Volume 45, Issue 1, Page 69-106, January/February 2026.Abstract Protein–protein interactions (PPIs) are essential for numerous biological activities, including signal transduction, transcription control, and metabolism. They play a pivotal role in the organization and function of the proteome, and their perturbation is associated with various diseases, such as cancer, neurodegeneration, and infectious ...
Xiaonan Liu +4 more
wiley +1 more source
CGB and GNRH1 expression analysis as a method of tumor cells metastatic spread detection in patients with gynecological malignances [PDF]
, 2011 Background Metastasis is a common feature of many advanced stage cancers and metastatic spread is thought to be responsible for cancer progression.
Mirosław Andrusiewicz +7 more
core +1 more source
The role of preclinical models in creatine transporter deficiency: Neurobiological mechanisms, biomarkers and therapeutic development [PDF]
, 2021 Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and
Baroncelli L. +8 more
core +2 more sources
Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice [PDF]
Journal of Molecular Neuroscience, 2019 The lack of cerebral creatine (Cr) causes intellectual disability and epilepsy. In addition, a significant portion of individuals with Cr transporter (Crt) deficiency (CTD), the leading cause of cerebral Cr deficiency syndromes (CCDS), are diagnosed with attention-deficit hyperactivity disorder.
Zuhair I. Abdulla +6 more
openaire +2 more sources
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter [PDF]
, 2017 Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and ...
Abplanalp, Jeannette +11 more
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