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   Articles with "transporter deficiency" as a keyword



Dopamine Transporter Deficiency Syndrome: A Case with Hyper‐ and Hypokinetic Extremes

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recommendations! Published in 2020 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.13064

Abstract: Dopamine transporter deficiency syndrome (DTDS) is a rare genetic disorder caused by variants of the SLC6A3 gene encoding the human dopamine transporter (DAT). The disease has 2 phenotypes: classic and atypical DTDS. Classic DTDS usually… read more here.

Keywords: transporter deficiency; dtds; deficiency syndrome; dopamine transporter ... See more keywords

Widening the phenotypic spectrum – Non epileptic presentation of folate transporter deficiency

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recommendations! Published in 2019 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2018.10.075

Abstract: INTRODUCTION Folate is essential for production of DNA, neurotransmitters and myelin and regulation of genetic activity. A specific transporter protein is required to transport folate from blood to CSF. Various inherited brain-specific folate transport defects… read more here.

Keywords: transporter deficiency; folate; non epileptic; folate transporter ... See more keywords

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency

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recommendations! Published in 2024 at "ACS Chemical Biology"

DOI: 10.1021/acschembio.4c00571

Abstract: Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired… read more here.

Keywords: creatine transporter; transporter deficiency; corrector; transporter ... See more keywords

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency

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recommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2210247119

Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.

Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.

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recommendations! Published in 2022 at "Journal of clinical neuromuscular disease"

DOI: 10.1097/cnd.0000000000000390

Abstract: ABSTRACT We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She… read more here.

Keywords: deficiency type; riboflavin transporter; electrodiagnostic findings; transporter deficiency ... See more keywords

Ocular Biomarkers of Riboflavin Transporter Deficiency

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recommendations! Published in 2022 at "Journal of Neuro-Ophthalmology"

DOI: 10.1097/wno.0000000000001678

Abstract: Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 (SLC52A2-RTD). Methods: This is a… read more here.

Keywords: riboflavin supplementation; riboflavin transporter; transporter deficiency; vision ... See more keywords

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).

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recommendations! Published in 2024 at "Neurology"

DOI: 10.1212/wnl.0000000000209243

Abstract: BACKGROUND AND OBJECTIVES Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease… read more here.

Keywords: creatine transporter; developmental trajectory; clinical characteristics; language ... See more keywords
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Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

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recommendations! Published in 2024 at "Frontiers in Cellular Neuroscience"

DOI: 10.3389/fncel.2024.1440555

Abstract: Introduction Riboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2. Riboflavin (Rf) is the precursor of FAD (flavin adenine… read more here.

Keywords: riboflavin; riboflavin transporter; derived motoneurons; ipsc derived ... See more keywords

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring

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recommendations! Published in 2024 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2024.1362497

Abstract: Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the Slc6a8 gene. The impaired creatine uptake in the brain leads to developmental delays with intellectual disability. We hypothesized that deficient creatine uptake… read more here.

Keywords: creatine transporter; methylation; dodecyl creatine; creatine ... See more keywords

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research

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recommendations! Published in 2025 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2025.1620586

Abstract: Over the last 15 years, significant progress has been made for Creatine Transporter Deficiency (CTD) patients, with increased awareness and visibility, better diagnosis, and improved care. Research projects have paved the way for clinical trials on… read more here.

Keywords: creatine transporter; questionnaire; research; transporter deficiency ... See more keywords

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

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recommendations! Published in 2020 at "Antioxidants"

DOI: 10.3390/antiox9121252

Abstract: Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration. Since riboflavin plays key functions in biological oxidation-reduction reactions, energy metabolism pathways involving flavoproteins are affected in RTD.… read more here.

Keywords: transporter deficiency; motor neurons; riboflavin transporter; pluripotent stem ... See more keywords