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Literature DB >> 27484770

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Rachel Straussberg¹, Gudrun Schottmann², Menachem Sadeh³, Esther Gill², Franziska Seifert², Ayelet Halevy¹, Kaiyal Qassem¹, John Rendu⁴, Peter F M van der Ven⁵, Werner Stenzel⁶, Markus Schuelke^7,8.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2016 PMID： 27484770 DOI： 10.1007/s00401-016-1602-9

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

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7 in total

1. A novel homozygous KY variant causing a complex neurological disorder.

Authors: Beenish Arif; Arisha Rasheed; Kishore R Kumar; Amara Fatima; Ghazanfar Abbas; Elizabeth Wohler; Nara Sobriera; Katja Lohmann; Sadaf Naz
Journal: Eur J Med Genet Date: 2020-08-18 Impact factor: 2.708

2. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Authors: Yuval Yogev; Yonatan Perez; Iris Noyman; Anwar Abu Madegem; Hagit Flusser; Zamir Shorer; Eugene Cohen; Leonid Kachko; Analia Michaelovsky; Ruth Birk; Arie Koifman; Max Drabkin; Ohad Wormser; Daniel Halperin; Rotem Kadir; Ohad S Birk
Journal: Eur J Hum Genet Date: 2017-05-10 Impact factor: 4.246

7. Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy.

Authors: Elliot J Jokl; Gideon L Hughes; Tobias Cracknell; Mary E Pownall; Gonzalo Blanco
Journal: Dis Model Mech Date: 2018-07-06 Impact factor: 5.758

7 in total

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

1. A novel homozygous KY variant causing a complex neurological disorder.

2. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Review 3. Myofibrillar myopathy in the genomic context.

4. Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.

Review 5. NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

6. IGFN1_v1 is required for myoblast fusion and differentiation.

7. Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy.