A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Saved in:

Bibliographic Details
Main Authors:	Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika A. Noegel, Peter Nürnberg
Format:	Artigo
Language:	English
Published:	2012
Online Access:	https://doi.org/10.1016/j.ajhg.2012.03.016
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
by: Hussain, Muhammad Sajid, et al.
Published: (2012)

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
by: Muhammad Sajid Hussain, et al.
Published: (2013)

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
by: Rasool, Sajida, et al.
Published: (2020)

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
by: Sukumaran, Salil K., et al.
Published: (2016)

Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
by: Inanç, Burcu, et al.
Published: (2013)

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
by: Muzammil Ahmad Khan, et al.
Published: (2014)

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
by: Makhdoom, Ehtisham Ul Haq, et al.
Published: (2021)

CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells
by: Ganapathi Sankaran, Divya, et al.
Published: (2019)

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
by: Waseem, Syeda Seema, et al.
Published: (2021)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
by: Guernsey, Duane L., et al.
Published: (2010)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
by: Duane L. Guernsey, et al.
Published: (2010)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
by: Lin, Yu-Chih, et al.
Published: (2013)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
by: Yu‐Chih Lin, et al.
Published: (2013)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
by: Hardy, Tara, et al.
Published: (2014)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
by: Tara Hardy, et al.
Published: (2014)

The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
by: Priyanka Singh, et al.
Published: (2014)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
by: Marjanović, Marko, et al.
Published: (2015)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
by: Marko Marjanović, et al.
Published: (2015)

Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells
by: Chu, Zhenzhen, et al.
Published: (2022)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
by: Ohta, Toshiro, et al.
Published: (2002)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
by: Toshiro Ohta, et al.
Published: (2002)

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
by: Carol-Anne Martin, et al.
Published: (2014)

Selective Chemical Crosslinking Reveals a Cep57-Cep63-Cep152 Centrosomal Complex
by: Gražvydas Lukinavičius, et al.
Published: (2013)

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
by: Maha S. Zaki, et al.
Published: (2015)

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
by: Alawbathani, Salem, et al.
Published: (2018)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
by: O’Rourke, Brian P., et al.
Published: (2014)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
by: Brian O’Rourke, et al.
Published: (2014)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
by: Prosser, Suzanna L., et al.
Published: (2022)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
by: Suzanna L. Prosser, et al.
Published: (2022)

Autophagy controls centrosome number by degrading Cep63
by: Watanabe, Yuichiro, et al.
Published: (2016)

Cep44 functions in centrosome cohesion by stabilizing rootletin
by: Hossain, Delowar, et al.
Published: (2020)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
by: Chavali, Pavithra L., et al.
Published: (2016)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
by: Pavithra L. Chavali, et al.
Published: (2016)

Same but different: pleiotropy in centrosome-related microcephaly
by: O’Neill, Ryan S., et al.
Published: (2018)

The APC/C targets the Cep152–Cep63 complex at the centrosome to regulate mitotic spindle assembly
by: Tischer, Thomas, et al.
Published: (2022)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
by: Namburi, Prasanthi, et al.
Published: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
by: Namburi, Prasanthi, et al.
Published: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
by: Prasanthi Namburi, et al.
Published: (2016)

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
by: Prasanthi Namburi, et al.
Published: (2016)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
by: Duerinckx, Sarah, et al.
Published: (2019)