Biallelic variants in POLR3A encoding catalytic subunit of human RNA polymerase III cause primary microcephaly through perturbation of the mTOR signaling pathway

被引：0

作者：

Makhdoom, Ehtisham ul Haq ^{[1
,2
,3
]}

Asif, Maria ^{[2
,3
]}

Abu Bakar, Moawia ^{[2
,3
]}

Sheraz, Khan ^{[4
]}

Alawbethani, Salem ^{[2
,3
,5
]}

Hoehne, Wolfgang ^{[2
,3
]}

Anjum, Iram ^{[6
]}

Fatima, Ambrin ^{[7
]}

Baig, Jamshaid ^{[8
]}

Georgomanolis, Theodoros

Budde, Birgit ^{[2
,3
]}

Irshad, Saba ^{[9
]}

Zastrow, Diane ^{[10
,11
]}

Kohler, Jennefer ^{[12
]}

Wheeler, Matthew ^{[12
]}

Bernstein, Jon ^{[13
]}

Cirak, Sebahattin ^{[14
,15
,16
]}

Nuernberg, Peter ^{[2
,3
,14
]}

Baig, Shahid M. ^{[17
]}

Latif, Faiza ^{[2
,3
]}

Hussain, Muhammad Sajid ^{[2
,3
,14
]}

Batool, Tahira

Hussain, Ghulam ^{[1
]}

Anwar, Haseeb ^{[1
]}

机构：

[1] Govt Coll Univ, Dept Physiol, Neurochemicalbiol & Genet Lab NGL, Fac Life Sci, Faisalabad, Pakistan

[2] Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Cologne, Germany

[3] Univ Hosp Cologne, Cologne, Germany

[4] PIEAS, Natl Inst Biotechnol & Genet Engn NIBGE Coll, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad, Pakistan

[5] GenAlive Lab, Riyadh, Saudi Arabia

[6] Kinnaird Coll Women, Lahore, Pakistan

[7] Aga Khan Univ, Dept Biol & Biomed Sci, Karachi, Pakistan

[8] Islamabad Coll Boys, Islamabad, Pakistan

[9] Univ Punjab, Sch Biochem & Biotechnol, Quaid E Azam Campus, Lahore, Pakistan

[10] Stanford Univ, Ctr Undiagnosed Dis, Stanford, CA 94305 USA

[11] Invitae, San Francisco, CA USA

[12] Stanford Univ, Dept Med, Div Cardiovasc Med, Stanford, CA USA

[13] Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA USA

[14] Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany

[15] Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Div Neuropediatr, Ulm, Germany

[16] Ulm Univ, Med Fac, Ulm, Germany

[17] Pakistan Sci Fdn PSF, 1 Constitut Ave,G-5-2, Islamabad, Pakistan

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P10.075.C

引用

页码：504 / 505

页数：2

共 4 条

[1] Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Genevieve
Chouery, Eliane
Putorti, Maria Lisa
Tetreault, Martine
Takanohashi, Asako
Carosso, Giovanni
Clement, Isabelle
Boespflug-Tanguy, Odile
Rodriguez, Diana
Delague, Valerie
Abou Ghoch, Joelle
Jalkh, Nadine
Dorboz, Imen
Fribourg, Sebastien
Teichmann, Martin
Megarbane, Andre
Schiffmann, Raphael
Vanderver, Adeline
Brais, Bernard
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (03) : 415 - 423
[2] Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy
Saitsu, Hirotomo
Osaka, Hitoshi
Sasaki, Masayuki
Takanashi, Jun-ichi
Hamada, Keisuke
Yamashita, Akio
Shibayama, Hidehiro
Shiina, Masaaki
Kondo, Yukiko
Nishiyama, Kiyomi
Tsurusaki, Yoshinori
Miyake, Noriko
Doi, Hiroshi
Ogata, Kazuhiro
Inoue, Ken
Matsumoto, Naomichi
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (05) : 644 - 651
[3] Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415 (vol 89, pg 415, 2011)
Bernard, Genevieve
Chouery, Eliane
Putorti, Maria Lisa
Tetreault, Martine
Takanohashi, Asako
Carosso, Giovanni
Clement, Isabelle
Boespflug-Tanguy, Odile
Rodriguez, Diana
Delague, Valerie
Abou Ghoch, Joelle
Jalkh, Nadine
Dorboz, Imen
Fribourg, Sebastien
Teichmann, Martin
Megarbane, Andre
Schiffrnann, Raphael
Vanderver, Adeline
Brais, Bernard
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (05) : 972 - 972
[4] Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III
Terao, Yasuo
Saitsu, Hirotomo
Segawa, Masaya
Kondo, Yukiko
Sakamoto, Kiwako
Matsumoto, Naomichi
Tsuji, Shoji
Nomura, Yoshiko
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2012, 320 (1-2) : 102 - 105

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