Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Author:

Sferra Antonella12,Fattori Fabiana12,Rizza Teresa12,Flex Elsabetta3,Bellacchio Emanuele2,Bruselles Alessandro3,Petrini Stefania4,Cecchetti Serena5,Teson Massimo6,Restaldi Fabrizia7,Ciolfi Andrea2,Santorelli Filippo M8,Zanni Ginevra12,Barresi Sabina2,Castiglioni Claudia9,Tartaglia Marco2,Bertini Enrico12ORCID

Affiliation:

1. Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy

2. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy

3. Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy

4. Confocal Microscopy Core Facility, Research Laboratories, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy

5. Confocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy

6. Laboratory of Molecular and Cell Biology, Istituto Dermopatico Dell’Immacolata IDI-IRCCS, 00167 Rome, Italy

7. Unit of Medical Genetics, Department of Laboratories, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy

8. IRCCS Stella Maris, Molecular Medicine and Neuromuscular Disorders, 56128 Pisa, Italy

9. Neurology Unit, Department of Pediatrics, Clínica Las Condes, 7550000 Santiago, Chile

Funder

Ministero della Salute

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

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