Results 51 to 60 of about 350 (155)

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts

Scientific Reports
Creatine transporter deficiency (CTD) caused by mutations in SLC6A8 encoding the creatine transporter (CRT), leads to cerebral creatine deficiency syndromes; however, the cellular impact of CRT loss remains unclear.
Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki   +8 more
doaj   +1 more source

A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT

Genetika, 2023
Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to identify early diagnosis clues in patients.
Habibe Ucar, Fatma Bulut, Berrak Gurbuz, Okan Dilek, Ilker Guney   +4 more
openaire   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Symptoms of creatine deficiency syndrome. Case report

, 2018
Kreatyna jest endogenną substancją organiczną, wykorzystywaną do magazynowania i uwalniania energii, niezbędnej do procesów metabolicznych zachodzących w organizmie. Substancja ta występuje głównie (98%) w mięśniach, małe ilości tego związku znajdują się
Sawicka, Agnieszka, Mazurkiewicz-Bełdzińska, Maria, Zawadzka, Marta, Lemska, Anna, Kwarciany, Mariusz, Lemka, Małgorzata   +5 more
core   +1 more source

[Cerebral creatine deficiency syndromes].

Acta medica portuguesa, 2014
Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity. They are characterized by low levels of cerebral creatine caused by different pathogenic mutations concerning the genes coding for ...
Rui, Malheiro, Luísa, Diogo, Paula, Garcia, Isabel, Fineza, Guiomar, Oliveira   +4 more
openaire   +1 more source

Linking Brain Morphometry to Psychometric Measures and Energy‐Metabolic Biomarkers in Adults With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is associated with differences in neurodevelopment and altered metabolism, yet the interplay between brain morphometry, mitochondrial and energy metabolism biomarkers, and autistic traits in adults remains poorly understood. This study investigates the link between brain structure, psychometric measures, and both
Eleonora Esposto, Kathrin Nickel, Dominique Endres, Kimon Runge, Katharina Domschke, Thomas Lange, Marco Reisert, Anke Schumann, Cinzia Niolu, Ludger Tebartz van Elst, Simon Maier   +10 more
wiley   +1 more source

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease

, 2023
Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. Symptoms include intellectual disability, epilepsy, and behavioral disorders and are caused by reduced ...
Ørngreen, Mette Cathrine, Grønborg, Sabine Weller, Považan, Michal, Petersen, Esben Thade, Malene Mejdahl Nielsen, Hammer, Trine Bjørg, Fenger, Christina Dühring, Allan Lund, Christina Dühring Fenger, Siebner, Hartwig Roman, Sabine Weller Grønborg, Hartwig Roman Siebner, Vincent Oltman Boer, Mejdahl Nielsen, Malene, Boer, Vincent Oltman, Michal Považan, Trine Bjørg Hammer, Esben Thade Petersen, Lund, Allan, Mette Cathrine Ørngreen   +19 more
core   +1 more source

P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*

Genetics in Medicine Open
Emily Groopman, Jenny Goldstein, Amanda Thomas-Wilson, Daniel Reich, Emily Kyle, Vimla Aggarwal, Christine Preston, Kim Hart, Nicole Si Yan Liang, Sarah Young, Simona Bianconi, Nicola Longo, Heidi Wallis, Saadet Mercimek-Andrews   +13 more
doaj   +2 more sources

Acute toxicity of ADB‐CHMINACA ‐ a case series of patients with pronounced central nervous symptoms including the posterior reversible encephalopathic syndrome

British Journal of Clinical Pharmacology, EarlyView.
Aim This report presents a series of 16 patients who were admitted to the emergency department following confirmed intake of the potent synthetic cannabinoid ADB‐CHMINACA. Methods The cases are drawn from a prospective observational study following the recreational use of synthetic cannabinoids.
Maren Hermanns‐Clausen, Michaela Sommer, Annette Zschiesche, Verena Angerer, Martin Scheu, Florian Eyer, Johannes Nadler, Volker Auwärter   +7 more
wiley   +1 more source

lncRNA DLX6-AS1 Promotes Myocardial Ischemia-Reperfusion Injury through Mediating the miR-204-5p/FBXW7 Axis

Mediators of Inflammation, 2023
Myocardial ischemia-reperfusion (IR) injury is the restoration of blood flow post ischemia, which threatens the human life. Long noncoding RNA distal-less homeobox 6 antisense 1 (DLX6-AS1) has been found to take part in the IR-induced cerebral injury ...
Fanshun Wang, Yuan Wu
doaj   +1 more source