Publications:

---

Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.

International Journal Of Molecular Sciences

Glaß, Hannes H; Neumann, Patrick P; Pal, Arun A; Reinhardt, Peter P; Storch, Alexander A; Sterneckert, Jared J; Hermann, Andreas A

Publication Date: 2020-03-05

Variant appearance in text: VPS13A: 7806G>A

PubMed Link: 32151030

Variant Present in the following documents:

• ijms-21-01797.pdf

View BVdb publication page

---

iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.

Embo Molecular Medicine

Hollingsworth, Ethan W EW; Vaughn, Jacob E JE; Orack, Josh C JC; Skinner, Chelsea C; Khouri, Jamil J; Lizarraga, Sofia B SB; Hester, Mark E ME; Watanabe, Fumihiro F; Kosik, Kenneth S KS; Imitola, Jaime J

Publication Date: 2017-12

Variant appearance in text: VPS13A: 7806G>A

PubMed Link: 29051230

Variant Present in the following documents:

• EMMM-9-1742-s001.pdf

View BVdb publication page

---

Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Stanslowsky, Nancy N; Reinhardt, Peter P; Glass, Hannes H; Kalmbach, Norman N; Naujock, Maximilian M; Hensel, Niko N; Lübben, Verena V; Pal, Arun A; Venneri, Anna A; Lupo, Francesca F; De Franceschi, Lucia L; Claus, Peter P; Sterneckert, Jared J; Storch, Alexander A; Hermann, Andreas A; Wegner, Florian F

Publication Date: 2016-11-23

Variant appearance in text: VPS13A: 7806G>A

PubMed Link: 27881786

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.

Blood

Lupo, Francesca F; Tibaldi, Elena E; Matte, Alessandro A; Sharma, Alok K AK; Brunati, Anna Maria AM; Alper, Seth L SL; Zancanaro, Carlo C; Benati, Donatella D; Siciliano, Angela A; Bertoldi, Mariarita M; Zonta, Francesca F; Storch, Alexander A; Walker, Ruth H RH; Danek, Adrian A; Bader, Benedikt B; Hermann, Andreas A; De Franceschi, Lucia L

Publication Date: 2016-12-22

Variant appearance in text: VPS13A: 7806G>A; P2602P

PubMed Link: 27742708

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis.

Plos One

De Franceschi, Lucia L; Scardoni, Giovanni G; Tomelleri, Carlo C; Danek, Adrian A; Walker, Ruth H RH; Jung, Hans H HH; Bader, Benedikt B; Mazzucco, Sara S; Dotti, Maria Teresa MT; Siciliano, Angela A; Pantaleo, Antonella A; Laudanna, Carlo C

Publication Date: 2012

Variant appearance in text: VPS13A: 7806G>A

PubMed Link: 22355334

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity.

Blood

De Franceschi, Lucia L; Tomelleri, Carlo C; Matte, Alessandro A; Brunati, Anna Maria AM; Bovee-Geurts, Petra H PH; Bertoldi, Mariarita M; Lasonder, Edwin E; Tibaldi, Elena E; Danek, Adrian A; Walker, Ruth H RH; Jung, Hans H HH; Bader, Benedikt B; Siciliano, Angela A; Ferru, Emanuela E; Mohandas, Narla N; Bosman, Giel J C G M GJ

Publication Date: 2011-11-17

Variant appearance in text: VPS13A: 7806G>A; P2602P

PubMed Link: 21951684

Variant Present in the following documents:

• Main text

View BVdb publication page

---