Sequence of CAN3_HUMAN

calpain-3

P20807

821

94254

906215

Richard I.,Broux O.,Allamand V.,Fougerousse F.,Chiannilkulchai N.,Bourg N.,Brenguier L.,Devaud C.,Pasturaud P.,Roudaut C.,Hillaire D.,Passos-Bueno M.-R.,Zatz M.,Tischfield J.A.,Fardeau M.,Jackson C.E.,Cohen D.,Beckmann J.S.

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Cell

81

27-40

1995

906220

Zody M.C.,Garber M.,Sharpe T.,Young S.K.,Rowen L.,O'Neill K.,Whittaker C.A.,Kamal M.,Chang J.L.,Cuomo C.A.,Dewar K.,FitzGerald M.G.,Kodira C.D.,Madan A.,Qin S.,Yang X.,Abbasi N.,Abouelleil A.,Arachchi H.M.,Baradarani L.,Birditt B.,Bloom S.,Bloom T.,Borowsky M.L.,Burke J.,Butler J.,Cook A.,DeArellano K.,DeCaprio D.,Dorris L. III,Dors M.,Eichler E.E.,Engels R.,Fahey J.,Fleetwood P.,Friedman C.,Gearin G.,Hall J.L.,Hensley G.,Johnson E.,Jones C.,Kamat A.,Kaur A.,Locke D.P.,Madan A.,Munson G.,Jaffe D.B.,Lui A.,Macdonald P.,Mauceli E.,Naylor J.W.,Nesbitt R.,Nicol R.,O'Leary S.B.,Ratcliffe A.,Rounsley S.,She X.,Sneddon K.M.B.,Stewart S.,Sougnez C.,Stone S.M.,Topham K.,Vincent D.,Wang S.,Zimmer A.R.,Birren B.W.,Hood L.,Lander E.S.,Nusbaum C.

Analysis of the DNA sequence and duplication history of human chromosome 15.

Nature

440

671-675

2006

906221

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

906222

Sorimachi H.,Imajoh-Ohmi S.,Emori Y.,Kawasaki H.,Ohno S.,Minami Y.,Suzuki K.

Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle.

J. Biol. Chem.

264

20106-20111

1989

906223

Miller M.K.,Bang M.-L.,Witt C.C.,Labeit D.,Trombitas C.,Watanabe K.,Granzier H.,McElhinny A.S.,Gregorio C.C.,Labeit S.

The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules.

J. Mol. Biol.

333

951-964

2003

906224

Richard I.,Roudaut C.,Saenz A.,Pogue R.,Grimbergen J.E.M.A.,Anderson L.V.B.,Beley C.,Cobo A.-M.,de Diego C.,Eymard B.,Gallano P.,Ginjaar H.B.,Lasa A.,Pollitt C.,Topaloglu H.,Urtizberea J.A.,de Visser M.,van der Kooi A.,Bushby K.,Bakker E.,Lopez de Munain A.,Fardeau M.,Beckmann J.S.

Calpainopathy -- a survey of mutations and polymorphisms.

Am. J. Hum. Genet.

64

1524-1540

1999

906225

Sarparanta J.,Blandin G.,Charton K.,Vihola A.,Marchand S.,Milic A.,Hackman P.,Ehler E.,Richard I.,Udd B.

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

J. Biol. Chem.

285

30304-30315

2010

906226

Tao T.,Shi H.,Guan Y.,Huang D.,Chen Y.,Lane D.P.,Chen J.,Peng J.

Def defines a conserved nucleolar pathway that leads p53 to proteasome-independent degradation.

Cell Res.

23

620-634

2013

906227

Ono Y.,Iemura S.,Novak S.M.,Doi N.,Kitamura F.,Natsume T.,Gregorio C.C.,Sorimachi H.

PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.

J. Mol. Biol.

425

2955-2972

2013

906228

Guan Y.,Huang D.,Chen F.,Gao C.,Tao T.,Shi H.,Zhao S.,Liao Z.,Lo L.J.,Wang Y.,Chen J.,Peng J.

Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle Progression through Def Recruitment of Calpain3.

PLoS Biol.

14

0-0

2016

906229

Partha S.K.,Ravulapalli R.,Allingham J.S.,Campbell R.L.,Davies P.L.

Crystal structure of calpain-3 penta-EF-hand (PEF) domain - a homodimerized PEF family member with calcium bound at the fifth EF-hand.

FEBS J.

281

3138-3149

2014

906230

Fardeau M.,Hillaire D.,Mignard C.,Feingold N.,Feingold J.,Mignard D.,de Ubeda B.,Collin H.,Tome F.M.S.,Richard I.,Beckmann J.S.

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion island.

Brain

119

295-308

1996

906231

Richard I.,Brenguier L.,Dincer P.,Roudaut C.,Bady B.,Burgunder J.-M.,Chemaly R.,Garcia C.A.,Halaby G.,Jackson C.E.,Kurnit D.M.,Lefranc G.,Legum C.,Loiselet J.,Merlini L.,Nivelon-Chevallier A.,Ollagnon-Roman E.,Restagno G.,Topaloglu H.,Beckmann J.S.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Am. J. Hum. Genet.

60

1128-1138

1997

906232

Dincer P.,Leturcq F.,Richard I.,Piccolo F.,Yalnizoglu D.,de Toma C.,Akcoeren Z.,Broux O.,Deburgrave N.,Brenguier L.,Roudaut C.,Urtizberea J.A.,Jung D.,Tan E.,Jeanpierre M.,Campbell K.P.,Kaplan J.-C.,Beckmann J.S.,Topaloglu H.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Ann. Neurol.

42

222-229

1997

906233

Urtasun M.,Saenz A.,Roudaut C.,Poza J.J.,Urtizberea J.A.,Cobo A.-M.,Richard I.,Garcia Bragado F.,Leturcq F.,Kaplan J.-C.,Marti Masso J.F.,Beckmann J.S.,Lopez de Munain A.

Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain).

Brain

121

1735-1747

1998

906234

Haeffner K.,Speer A.,Huebner C.,Voit T.,Oexle K.

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

Hum. Mutat. Suppl.

1

0-0

1998

906235

Penisson-Besnier I.,Richard I.,Dubas F.,Beckmann J.S.,Fardeau M.

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Muscle Nerve

21

1078-1080

1998

906236

Kawai H.,Akaike M.,Kunishige M.,Inui T.,Adachi K.,Kimura C.,Kawajiri M.,Nishida Y.,Endo I.,Kashiwagi S.,Nishino H.,Fujiwara T.,Okuno S.,Roudaut C.,Richard I.,Beckmann J.S.,Miyoshi K.,Matsumoto T.

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.

Muscle Nerve

21

1493-1501

1998

906237

Fattahi Z.,Kalhor Z.,Fadaee M.,Vazehan R.,Parsimehr E.,Abolhassani A.,Beheshtian M.,Zamani G.,Nafissi S.,Nilipour Y.,Akbari M.R.,Kahrizi K.,Kariminejad A.,Najmabadi H.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Clin. Genet.

91

386-402

2017

906238

Fadaee M.,Kariminejad A.,Fattahi Z.,Nafissi S.,Godarzi H.R.,Beheshtian M.,Vazehan R.,Akbari M.R.,Kahrizi K.,Najmabadi H.

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Neuromuscul. Disord.

26

277-282

2016

906239

Vissing J.,Barresi R.,Witting N.,Van Ghelue M.,Gammelgaard L.,Bindoff L.A.,Straub V.,Lochmueller H.,Hudson J.,Wahl C.M.,Arnardottir S.,Dahlbom K.,Jonsrud C.,Duno M.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Brain

139

2154-2163

2016

906240

Martinez-Thompson J.M.,Niu Z.,Tracy J.A.,Moore S.A.,Swenson A.,Wieben E.D.,Milone M.

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.

Muscle Nerve

57

679-683

2018