CLTC encodes clathrin heavy chain 1 (CHC1), a major subunit of the clathrin triskelion polymer, combining three heavy and three light chains,1 which is implied in vesicles trafficking and synaptic neurotransmitters homeostasis through the formation of clathrin-coated vesicles.2 CLTC is highly expressed in the developing brain and de novo mutations in this gene underlie a wide spectrum of infantile and childhood neurodevelopmental disorders, including facial dysmorphism, brain malformations, musculoskeletal defects, intellectual disability, and epileptic encephalopathy (MIM 617854).

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient / Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V. - In: MOVEMENT DISORDERS CLINICAL PRACTICE. - ISSN 2330-1619. - 10:9(2023), pp. 1430-1432. [10.1002/mdc3.13834]

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient

Nardecchia, F
Primo
Writing – Original Draft Preparation
;
Bove, R
Writing – Original Draft Preparation
;
Pollini, L
Writing – Original Draft Preparation
;
Giannini, MT
Data Curation
;
Manti, F
Writing – Original Draft Preparation
;
Papoff, P
Writing – Original Draft Preparation
;
Leuzzi, V
Ultimo
Writing – Original Draft Preparation
2023

Abstract

CLTC encodes clathrin heavy chain 1 (CHC1), a major subunit of the clathrin triskelion polymer, combining three heavy and three light chains,1 which is implied in vesicles trafficking and synaptic neurotransmitters homeostasis through the formation of clathrin-coated vesicles.2 CLTC is highly expressed in the developing brain and de novo mutations in this gene underlie a wide spectrum of infantile and childhood neurodevelopmental disorders, including facial dysmorphism, brain malformations, musculoskeletal defects, intellectual disability, and epileptic encephalopathy (MIM 617854).
2023
CLTC deficiency; clathrin heavy chain polypeptide; clathrin-coated vesicles; pediatric movement disorders; neurodevelopmental disorder
01 Pubblicazione su rivista::01i Case report
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient / Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V. - In: MOVEMENT DISORDERS CLINICAL PRACTICE. - ISSN 2330-1619. - 10:9(2023), pp. 1430-1432. [10.1002/mdc3.13834]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1689255
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